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Volume 16; Issue 6
Main
Human Mutation
Volume 16; Issue 6
Human Mutation
Volume 16; Issue 6
1
Mutations in the LMNA gene encoding lamin A/C
Janine Genschel
,
Hartmut H.-J. Schmidt
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2000
2
SALL1 mutations in Townes-Brocks syndrome and related disorders
Jürgen Kohlhase
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 206 KB
Your tags:
english, 2000
3
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
Hiroko Morisaki
,
Itsuro Higuchi
,
Mayumi Abe
,
Mitsuhiro Osame
,
Takayuki Morisaki
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2000
4
Identification of two functionally deficient plasma α3-fucosyltransferase (FUT6) alleles
Anders Elmgren
,
Cecilia Börjeson
,
Rosella Mollicone
,
Rafael Oriol
,
Anne Fletcher
,
Göran Larson
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 339 KB
Your tags:
english, 2000
5
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
Ewa Grzybowska
,
Helena Zientek
,
Anna Jasinska
,
Marek Rusin
,
Piotr Kozlowski
,
Krzysztof Sobczak
,
Anna Sikorska
,
Eliza Kwiatkowska
,
Laura Gorniak
,
Ewa Kalinowska
,
Beata Utracka-Hutka
,
Jan Wloch
,
Ewa Chm
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 347 KB
Your tags:
english, 2000
6
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer
Ronit Shiri-Sverdlov
,
Peter Oefner
,
Limor Green
,
Ruth Gershoni Baruch
,
Teresa Wagner
,
Anna Kruglikova
,
Samario Haitchick
,
Robert M.W. Hofstra
,
Moshe Z. Papa
,
Inge Mulder
,
Shulamit Rizel
,
Revital Bruch
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2000
7
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
S. Prasad
,
R.A. Cucci
,
G.E. Green
,
R.J.H. Smith
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 232 KB
Your tags:
english, 2000
8
Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
Cisca Wijmenga
,
R. Scott Hansen
,
Giorgio Gimelli
,
Erik J. Björck
,
E. Graham Davies
,
David Valentine
,
Bernd H. Belohradsky
,
Jacques J. van Dongen
,
Dominique F.C.M. Smeets
,
Lambert P.W.J. van den Heuvel
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2000
9
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content
Jean-Louis Escary
,
Michaelle Cécillon
,
Jacqueline Maciazek
,
Mark Lathrop
,
Elisabeth Tournier-Lasserve
,
Anne Joutel
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 288 KB
Your tags:
english, 2000
10
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency syndrome; Dong Wang; Pamela Kranz-Eble; Darryl C. De Vivo; (Article was originally published in Human Mutation 16:224–231, 2000)
Journal:
Human Mutation
Year:
2000
File:
PDF, 106 KB
Your tags:
2000
11
Novel thymidylate synthase enhancer region alleles in African populations
Sharon Marsh
,
Margaret M. Ameyaw
,
Jessie Githang'a
,
Anne Indalo
,
David Ofori-Adjei
,
Howard L. McLeod
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2000
12
BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations
Luan Tao
,
Mark Boyd
,
Greg Gonye
,
Barbara Malone
,
Jerrold Schwaber
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2000
13
Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations
Roberta Campanile A. Leite
,
Daniela S. Basseres
,
Jovino S. Ferreira
,
Fernando Lopes Alberto
,
Fernando F. Costa
,
Sara T.O. Saad
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2000
14
Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany
Marion Kiechle
,
Eva Gross
,
Ulrike Schwarz-Boeger
,
Jacobus Pfisterer
,
Walter Jonat
,
Wolf-Dieter Gerber
,
Birgit Albacht
,
Barbara Fischer
,
Brigitte Schlegelberger
,
Norbert Arnold
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
15
Polymorphisms in a pseudogene highly homologous to PMS2
Robert B. Chadwick
,
Julie E. Meek
,
Thomas W. Prior
,
PaivI Peltomaki
,
Albert de la Chapelle
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 215 KB
Your tags:
english, 2000
16
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients
Varaporn Akkarapatumwong
,
Sorasak Intorasoot
,
Sumalee Oranwiroon
,
Prapaporn Thano-otarakul
,
Parichat Pung-amritt
,
Gavivann Veerakul
,
Chularatana Mahasandana
,
Sakol Panyim
,
Pa-thai Yenchitsomanus
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 17 KB
Your tags:
english, 2000
17
Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C>T)
Mirella Meregalli
,
Andrea Pellagatti
,
Elena Bissolotti
,
Anna Ludovica Fracanzani
,
Silvia Fargion
,
Maurizio Sampietro
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2000
18
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria
Adriana De Siervi
,
Victoria E. Parera
,
Alcira M. del C. Batlle
,
María V. Rossetti
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2000
19
Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms
Cécile Batandier
,
Aleth Picard
,
Nadine Tessier
,
Joël Lunardi
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 8 KB
Your tags:
english, 2000
20
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient
Manuela Seia
,
Angelo Cantù-Rajnoldi
,
Antonella Ambrosioni
,
Sabrina Fiori
,
Alessandra Bassotti
,
G. Pizzamiglio
,
Annamaria Giunta
,
Rita Padoan
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2000
21
TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia
Yuk-Fai Leung
,
Pancy Oi-Sin Tam
,
Larry Baum
,
Dennis Shun-Chiu Lam
,
Calvin Chi-Pui Pang
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2000
22
A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)
Andreas Weinhaeusel
,
Heinrich Vierhapper
,
Robert Schlegl
,
Theresa Wagner
,
Daniela Muhr
,
Christian Scheuba
,
Bruno Niederle
,
Oskar A. Haas
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
23
Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene
Patrick Kloos
,
Susanne Mergenthaler
,
Michael B. Ranke
,
Hartmut A. Wollmann
,
Thomas Eggermann
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
24
Novel variants in 3 kb of 5′UTR of the β1-adrenergic receptor gene (–93C>T, –210C>T, and –2146T>C): –2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart disease
Katrin Wenzel
,
Stephan B. Felix
,
David Bauer
,
Petra Heere
,
Christina Flachmeier
,
Svenia Podlowski
,
Karla Köpke
,
Margret R. Hoehe
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2000
25
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective
Johannes Berger
,
Thomas Korosec
,
Gertraud Unterrainer
,
Brunhilde Molzer
Journal:
Human Mutation
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
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