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Volume 15; Issue 1
Main
Human Mutation
Volume 15; Issue 1
Human Mutation
Volume 15; Issue 1
1
Acknowledgments
Mark H. Paalman
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2000
2
p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis
Thierry Soussi
,
Karim Dehouche
,
Christophe Béroud
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 331 KB
Your tags:
english, 2000
3
Somatic mosaicism in von Hippel-Lindau disease
Alessandra Murgia
,
Maddalena Martella
,
Cinzia Vinanzi
,
Roberta Polli
,
Giorgio Perilongo
,
Giuseppe Opocher
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2000
4
Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans
D.J. Orten
,
M.D. Weston
,
P.M. Kelley
,
C.W. Cremers
,
M. Wagenaar
,
S.G. Jacobson
,
W.J. Kimberling
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 522 KB
Your tags:
english, 2000
5
A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript
Anna Thongnoppakhun
,
Nanyawan Rungroj
,
Prapon Wilairat
,
Kriengsak Vareesangthip
,
Chintana Sirinavin
,
Pa-thai Yenchitsomanus
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 222 KB
Your tags:
english, 2000
6
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Hans H. Seydewitz
,
Dietrich Matern
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2000
7
Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families
G. Isidro
,
I. Veiga
,
P. Matos
,
S. Almeida
,
S. Bizarro
,
B. Marshall
,
M. Baptista
,
J. Leite
,
F. Regateiro
,
J. Soares
,
S. Castedo
,
M.G. Boavida
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 1.10 MB
Your tags:
english, 2000
8
Nine independent F9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline
Ana Rebeca Jaloma-Cruz
,
William A. Scaringe
,
Joni B. Drost
,
Stacy Roberts
,
Xuemin Li
,
Patricio Barros-Núñez
,
Luis E. Figuera
,
Fernando Rivas
,
José María Cantú
,
Steve S. Sommer
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 26 KB
Your tags:
english, 2000
9
Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients
Paola Orlandi
,
Kostas Ritis
,
Viviana Moschese
,
Federica Angelini
,
Konstantinos Arvanitidis
,
Matthaios Speletas
,
Paschalis Sideras
,
Alessandro Plebani
,
Paolo Rossi
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2000
10
Mutations of the factor VIII gene in Thai hemophilia A patients
V. Akkarapatumwong
,
S. Oranwiroon
,
P. Pung-amritt
,
A. Treesucon
,
P. Thanootarakul
,
G. Veerakul
,
C. Mahasandana
,
S. Panyim
,
P. Yenchitsomanus
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2000
11
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
E. Mayatepek
,
J. Nezu
,
I. Tamai
,
A. Oku
,
M. Katsura
,
M. Shimane
,
A. Tsuji
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 20 KB
Your tags:
english, 2000
12
MEFV mutations in Turkish patients suffering from familial Mediterranean fever
Nejat Akar
,
Müge Misiroglu
,
Fatos Yalcinkaya
,
Ece Akar
,
Nilgün Cakar
,
Necmiye Tümer
,
Mustafa Akcakus
,
Hakki Tastan
,
Yaacov Matzner
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2000
13
The m2 and m4 polymorphisms in CYP1A1 by NcoI digest—Revision of detection method
David Israeli
,
Yael Patael
,
Tal Friedman
,
Eitan Friedman
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 16 KB
Your tags:
english, 2000
14
A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
Jaana M. Hartikainen
,
Mia M. Pirskanen
,
Airi H. Arffman
,
Ulla K. Ristonmaa
,
Arto J. Mannermaa
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
15
Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE
Rachel Bradbury
,
Elizabeth Fagan
,
Stewart J. Payne
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
16
A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy
Jose-Raul Garcia-Lozano
,
Isabel Aguilera
,
Juan Bautista
,
Antonio Nuñez-Roldan
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
17
A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
H. Mittre
,
J.F. Duhamel
,
G. Abeguile
,
M. Lemaire
,
P. Leymarie
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2000
18
Two RFLPS (AciI; c954C/T and FokI; c1023FokIT/C) within the coding region of the gene for human Fe65L2, a protein which interacts with Alzheimer beta-amyloid precursor protein
Hiroshi Tanahashi
,
Takeshi Tabira
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 15 KB
Your tags:
english, 2000
19
Characterization of three new VNTR alleles in the promoter region of the TPMT gene
Sandra Alves
,
Fátima Ferreira
,
Maria João Prata
,
António Amorim
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
20
A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country
Susana Seixas
,
Oscar Garcia
,
António Amorim
,
Jorge Rocha
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2000
21
Novel TIGR sequence alteration Val53Ala
C.P. Pang
,
Y.F. Leung
,
John K.H. Chua
,
Larry Baum
,
Dorothy S.P. Fan
,
Dennis S.C. Lam
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2000
22
A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene
Catherine M. Hayden
,
Jack Goldblatt
,
Peter N. LeSouef
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2000
23
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia
Martin Gencik
,
Alexandra Gencik
,
Wilhelm Mortier
,
Jörg T. Epplen
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
24
A new germline mutation, R600Q, within the coding region of RET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation?
M.E. Sáez
,
A. Ruiz
,
A. Cebrián
,
F. Morales
,
M. Robledo
,
G. Antiñolo
,
S. Borrego
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2000
25
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
Charles R. Scriver
,
Piotr M. Nowacki
,
Heikki Lehväslaiho
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2000
26
Quality control in the discovery, reporting, and recording of genomic variation
Richard G.H. Cotton
,
Ourania Horaitis
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2000
27
Overview: Progress toward a new millennium of medical genetics
Haig H. Kazazian
,
Jr.
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 60 KB
Your tags:
english, 2000
28
Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative
Stephen M. Maurer
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 273 KB
Your tags:
english, 2000
29
Ethical guideposts for allelic variation databases
Bartha Maria Knoppers
,
Claude M. Laberge
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 166 KB
Your tags:
english, 2000
30
Central mutation databases—A review
Christopher J. Porter
,
C. Conover Talbot
,
Jr.
,
A. Jamie Cuticchia
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 244 KB
Your tags:
english, 2000
31
Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue
Richard G.H. Cotton
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2000
32
Human Gene Mutation Database—A biomedical information and research resource
Michael Krawczak
,
Edward V. Ball
,
Iain Fenton
,
Peter D. Stenson
,
Shaun Abeysinghe
,
Nick Thomas
,
David N. Cooper
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 217 KB
Your tags:
english, 2000
33
Sequence variation database project at the European Bioinformatics Institute
Heikki Lehväslaiho
,
Elia Stupka
,
Michael Ashburner
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2000
34
Online Mendelian Inheritance In Man (OMIM)
Ada Hamosh
,
Alan F. Scott
,
Joanna Amberger
,
David Valle
,
Victor A. McKusick
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 215 KB
Your tags:
english, 2000
35
Future vision of the GDB Human Genome Database
A. Jamie Cuticchia
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 180 KB
Your tags:
english, 2000
36
Use of molecular variation in the NCBI dbSNP database
Stephen T. Sherry
,
Minghong Ward
,
Karl Sirotkin
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2000
37
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Johan T. den Dunnen
,
Stylianos E. Antonarakis
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 204 KB
Your tags:
english, 2000
38
MuStaR™ and other software for locus-specific mutation databases
Alastair F. Brown
,
Mark A. McKie
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 648 KB
Your tags:
english, 2000
39
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
Christophe Béroud
,
Gwenaëlle Collod-Béroud
,
Catherine Boileau
,
Thierry Soussi
,
Claudine Junien
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2000
40
Eye disorder database “KMeyeDB”
S. Minoshima
,
S. Mitsuyama
,
S. Ohno
,
T. Kawamura
,
N. Shimizu
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 241 KB
Your tags:
english, 2000
41
PAHdb: A locus-specific knowledgebase
Charles R. Scriver
,
Paula J. Waters
,
Christineh Sarkissian
,
Shannon Ryan
,
Lynne Prevost
,
David Côté
,
Jaroslav Novak
,
Saeed Teebi
,
Piotr M. Nowacki
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2000
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