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Volume 16; Issue 3
Main
Human Mutation
Volume 16; Issue 3
Human Mutation
Volume 16; Issue 3
1
Activating and inactivating mutations in the human GNAS1 gene
Micheala A. Aldred
,
Richard C. Trembath
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 201 KB
Your tags:
english, 2000
2
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
Raquel Rabionet
,
Paolo Gasparini
,
Xavier Estivill
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 449 KB
Your tags:
english, 2000
3
Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans
Joni B. Drost
,
William A. Scaringe
,
Ana Rebeca Jaloma-Cruz
,
Xuemin Li
,
Diego F. Ossa
,
Carol K. Kasper
,
Steve S. Sommer
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 259 KB
Your tags:
english, 2000
4
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints
Edgar Otto
,
Regina Betz
,
Cornelia Rensing
,
Silvia Schätzle
,
Thomas Kuntzen
,
Thalia Vetsi
,
Anita Imm
,
Friedhelm Hildebrandt
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 469 KB
Your tags:
english, 2000
5
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome
Dong Wang
,
Pamela Kranz-Eble
,
Darryl C. De Vivo
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 328 KB
Your tags:
english, 2000
6
Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia
K. Laake
,
L. Jansen
,
J.M. Hahnemann
,
K. Brøndum-Nielsen
,
T. Lönnqvist
,
H. Kääriäinen
,
R. Sankila
,
A. Lähdesmäki
,
L. Hammarström
,
J. Yuen
,
S. Tretli
,
A. Heiberg
,
J.H. Olsen
,
M. Tucker
,
R. Kleinerman
,
A
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 446 KB
Your tags:
english, 2000
7
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
E. Schollen
,
L. Dorland
,
T.J. de Koning
,
O.P. Van Diggelen
,
J.G.M. Huijmans
,
T. Marquardt
,
D. Babovic-Vuksanovic
,
M. Patterson
,
F. Imtiaz
,
B. Winchester
,
M. Adamowicz
,
E. Pronicka
,
H. Freeze
,
G. Matth
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2000
8
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
B. Gérard
,
N. Ginet
,
G. Matthijs
,
P. Evrard
,
C. Baumann
,
F. Da Silva
,
M. Gérard-Blanluet
,
M. Mayer
,
B. Grandchamp
,
J. Elion
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2000
9
Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G
Stan R. Svojanovsky
,
Thomas D. Schneider
,
Peter K. Rogan
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 70 KB
Your tags:
english, 2000
10
8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada
Arleen D. Auerbach
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2000
11
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia
Orit Jakobovitz-Picard
,
David Olchovsky
,
Meir Berezin
,
Azizela Ghodsizade
,
Zvi Zahavi
,
Avraham Karasik
,
Gideon Rechavi
,
Eitan Friedman
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2000
12
Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
Manuel Mendez
,
María Victoria Rossetti
,
Adriana De Siervi
,
Alcira M. del Carmen Batlle
,
Victoria Parera
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 61 KB
Your tags:
english, 2000
13
Novel mutations in the myocilin gene in Japanese glaucoma patients
Ryo Kubota
,
Yukihiko Mashima
,
Yuichiro Ohtake
,
Tomihiko Tanino
,
Tairo Kimura
,
Yoshihiro Hotta
,
Atsushi Kanai
,
Satoru Tokuoka
,
Ikuo Azuma
,
Hidenobu Tanihara
,
Masaru Inatani
,
Yoichi Inoue
,
Jun Kudoh
,
Yo
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2000
14
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect
Akio Koizumi
,
Yutaka Shoji
,
Jun-nichi Nozaki
,
Atsuko Noguchi
,
Xiaofei E
,
Miwako Dakeishi
,
Toshihiro Ohura
,
Kayo Tsuyoshi
,
Wada Yasuhiko
,
Motomu Manabe
,
Yuhei Takasago
,
Goro Takada
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 150 KB
Your tags:
english, 2000
15
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations
M. Gomez Lira
,
M. Mottes
,
P.F. Pignatti
,
I. Medica
,
G. Uziel
,
M. Cappa
,
E. Bertini
,
N. Rizzuto
,
A. Salviati
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2000
16
MEFV mutations in Behçet's disease
Isabelle Touitou
,
Xavier Magne
,
Nicolas Molinari
,
André Navarro
,
Alain Le Quellec
,
Paolo Picco
,
Marco Seri
,
Seza Ozen
,
Aysin Bakkaloglu
,
Aysen Karaduman
,
Jean Marc Garnier
,
Jacques Demaille
,
Isabelle
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 47 KB
Your tags:
english, 2000
17
BRCA1 mutation analysis in breast/ovarian cancer families from Greece
Irene Konstantopoulou
,
Christos Kroupis
,
Angela Ladopoulou
,
Alexandros Pantazidis
,
Dimitra Boumba
,
Evriklia S. Lianidou
,
Michael B. Petersen
,
Lina Florentin
,
Efstratios Chiotellis
,
George Nounesis
,
El
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2000
18
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)
Sian Ellard
,
Michael P. Bulman
,
Timothy M. Frayling
,
Maggie Shepherd
,
Andrew T. Hattersley
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 130 KB
Your tags:
english, 2000
19
Sequence variation within the RPGR gene: Evidence for a founder complex allele
Ilaria Zito
,
Alex Morris
,
Phil Tyson
,
Ingrid Winship
,
Dianne Sharp
,
Dale Gilbert
,
Dawn L. Thiselton
,
Shomi S. Bhattacharya
,
Alison J. Hardcastle
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 66 KB
Your tags:
english, 2000
20
Two distinct alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations
Hao Pang
,
Noboru Fujitani
,
Mikiko Soejima
,
Yoshiro Koda
,
Mohammed Nasimul Islam
,
A.K.M. Shamsul Islam
,
Hiroshi Kimura
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 158 KB
Your tags:
english, 2000
21
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1
E. Girodon Boulandet
,
J. Pantel
,
C. Cazeneuve
,
M. Van Gijn
,
D. Vidaud
,
S. Lemay
,
J. Martin
,
J. Zeller
,
J. Revuz
,
M. Goossens
,
S. Amselem
,
P. Wolkenstein
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 56 KB
Your tags:
english, 2000
22
A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa
Rita Gardella
,
Sergio Barlati
,
Nicoletta Zoppi
,
Gianluca Tadini
,
Marina Colombi
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2000
23
An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese
Guangxun Meng
,
Jinduo Yuan
,
Liguo An
,
Jialei Gong
,
Hanmin Zhu
,
Sisong Cui
,
Zhengyan Yu
,
Gengxi Hu
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2000
24
Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree
George Miltiadous
,
Moses Elisaf
,
Stavroulla Xenophontos
,
Panayiotis Manoli
,
Marios A. Cariolou
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
25
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia
Aldo Giannotti
,
Alessandra Tessa
,
Clarice Patrono
,
Lucia De Florio
,
Margherita Velardo
,
Carlo Dionisi-Vici
,
Enrico Bertini
,
Filippo M. Santorelli
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2000
26
A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene
Hans Hermann Seydewitz
,
Tanja Gonska
,
Marcus Mall
,
Joachim Kueh
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2000
27
CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C
Petr A. Slominsky
,
Marya I. Shadrina
,
Ekaterina A. Kondratyeva
,
Tatiana V. Tupitsina
,
Gleb N. Levitsky
,
Veronika I. Skvortsova
,
Svetlana A. Limborska
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 17 KB
Your tags:
english, 2000
28
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene
Janine Genschel
,
Peter Baier
,
Susanne Kuepferling
,
Marcus J. Proepsting
,
Carsten Buettner
,
Ralf Ewert
,
Roland Hetzer
,
Herbert Lochs
,
Hartmut H.-J. Schmidt
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
29
A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
Carlos Reig
,
María Martinez-Gimeno
,
Miguel Carballo
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2000
30
Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene
Janine Genschel
,
Grit Sommer
,
Regina Haas
,
Carsten Buettner
,
Bettina Bochow
,
Michael Manns
,
Herbert Lochs
,
Hartmut H.-J. Schmidt
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
31
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus
Manuela Seia
,
Angelo Cantù-Rajnoldi
,
Antonella Ambrosioni
,
Sabrina Fiori
,
Silvia Prandoni
,
Carlo Corbetta
,
Alessandra Bassotti
,
Elena Moretti
,
Annamaria Giunta
,
Rita Padoan
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
32
Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene
Asako Horinishi
,
Toshio Murase
,
Minoru Okubo
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2000
33
Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association
Yumiko Umino
,
Hirohiko Hohjoh
,
Katsushi Tokunaga
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2000
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