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Volume 17; Issue 4
Main
Human Mutation
Volume 17; Issue 4
Human Mutation
Volume 17; Issue 4
1
SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8–11, 2000, Taos, New Mexico, USA
Anthony J. Brookes
,
Pui-Yan Kwok
,
P. Scott White
,
Peter J. Oefner
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2001
2
A semi-automated system for analysis and storage of SNPs
Valerie Lehnert
,
James Holzwarth
,
Michael Ott
,
Annick Thompson
,
Sabine Demmak
,
Dorothee Foernzler
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 428 KB
Your tags:
english, 2001
3
Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map
A. Collins
,
S. Ennis
,
P. Taillon-Miller
,
P-Y. Kwok
,
N.E. Morton
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 264 KB
Your tags:
english, 2001
4
SNPs, protein structure, and disease
Zhen Wang
,
John Moult
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 357 KB
Your tags:
english, 2001
5
Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific
Peter A. Underhill
,
Giuseppe Passarino
,
Alice A. Lin
,
Sangkot Marzuki
,
Peter J. Oefner
,
L. Luca Cavalli-Sforza
,
Geoffrey K. Chambers
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 294 KB
Your tags:
english, 2001
6
Characterization of publicly available SNPs in the Korean population
Seong-Gene Lee
,
Sunghee Hong
,
Yongsook Yoon
,
Insil Yang
,
Kyuyoung Song
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2001
7
Statistical multilocus methods for disequilibrium analysis in complex traits
Jurg Ott
,
Josephine Hoh
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2001
8
Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information
K. Rohde
,
R. Fuerst
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 178 KB
Your tags:
english, 2001
9
High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise
Molly S. Bray
,
Eric Boerwinkle
,
Peter A. Doris
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 333 KB
Your tags:
english, 2001
10
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification
Fei Ye
,
May-Sung Li
,
J. David Taylor
,
Quan Nguyen
,
Heidi M. Colton
,
Warren M. Casey
,
Michael Wagner
,
Michael P. Weiner
,
Jingwen Chen
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 644 KB
Your tags:
english, 2001
11
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2001
12
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 343 KB
Your tags:
english, 2001
13
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene
Wilfried Kugler
,
Arnulf Pekrun
,
Petra Laspe
,
Bernhard Erdlenbruch
,
Max Lakomek
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 26 KB
Your tags:
english, 2001
14
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome
A. Tessa
,
I. Carbone
,
M.C. Matteoli
,
C. Bruno
,
C. Patrono
,
I.P. Patera
,
F. De Luca
,
R. Lorini
,
F.M. Santorelli
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2001
15
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
Kati Pääkkönen
,
Stefano Cambiaghi
,
Giuseppe Novelli
,
Lizbeth V. Ouzts
,
Maila Penttinen
,
Juha Kere
,
Anand K. Srivastava
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2001
16
Human GABAB receptor 1 gene: Eight novel sequence variants
Fuki M. Hisama
,
Jeffrey R. Gruen
,
Jenny Choi
,
Masha Huseinovic
,
Elena L. Grigorenko
,
David Pauls
,
Richard H. Mattson
,
Joel Gelernter
,
Frank B. Wood
,
Vita L. Goei
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 29 KB
Your tags:
english, 2001
17
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)
M.D. Cappellini
,
F. Martinez di Montemuros
,
D. Tavazzi
,
S. Fargion
,
A. Pizzuti
,
A. Comino
,
T. Cainelli
,
G. Fiorelli
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 89 KB
Your tags:
english, 2001
18
Haplotyping of wild type and I278T alleles of the human cystathionine β-synthase gene based on a cluster of novel SNPs in IVS12
Michael Linnebank
,
Anja Homberger
,
Jan Peter Kraus
,
Erik Harms
,
Viktor Kozich
,
Hans Georg Koch
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2001
19
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
Maria Kamarinos
,
Jim McGill
,
Michael Lynch
,
Henrik Dahl
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2001
20
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
Olivier Camand
,
Dominique Marchant
,
Sandrine Boutboul
,
Marie Péquignot
,
Sylvie Odent
,
Hélène Dollfus
,
Joanne Sutherland
,
Alex Levin
,
Maurice Menasche
,
Cécile Marsac
,
Jean-Louis Dufier
,
Elise Heon
,
Mar
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2001
21
Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene
Irene Marcos
,
Agustín Ruiz
,
Salud Borrego
,
Guillermo Antiñolo
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2001
22
Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1)
N. Preuss
,
J. Gärtner
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 18 KB
Your tags:
english, 2001
23
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease
Dominique P. Germain
,
Dominique Salard
,
Florence Fellmann
,
Kemal Azibi
,
Catherine Caillaud
,
Marie-Charlotte Bernard
,
Livia Poenaru
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2001
24
A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years
Rémy Demeester
,
Jasmine Parma
,
Pascale Cochaux
,
Gilbert Vassart
,
Marc J. Abramowicz
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 15 KB
Your tags:
english, 2001
25
Identification of a polymorphism (D168N) in the XRP2 gene in Chinese
Wei-De Lin
,
Yi-Ru Shi
,
Fuu-Jen Tsai
,
Cheng-Chun Lee
,
Hui-Ju Lin
,
Jer-Yuarn Wu
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 13 KB
Your tags:
english, 2001
26
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X
Janine Genschel
,
Hans-Peter Thomas
,
Ursula Kassner
,
Herbert Lochs
,
Elisabeth Steinhagen-Thiessen
,
Hartmut H-J. Schmidt
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2001
27
Population analysis of g.2488delG and three novel polymorphisms (g.4497G>A, g.4503G>A and g.2319G>A) in the plasminogen activator inhibitor 1 (PAI-1) gene
Mutsumi Iwao
,
Hiroko Morisaki
,
Hiromi Matsunaga
,
Takayuki Morisaki
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 17 KB
Your tags:
english, 2001
28
Two novel polymorphisms g.1715G>A (A496T) and g.1838G>A (3′UTR), and the g.1548G>A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: Distribution in the Japanese and European American populations
Mutsumi Iwao
,
Hiroko Morisaki
,
Hiromi Matsunaga
,
Takayuki Morisaki
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 16 KB
Your tags:
english, 2001
29
A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria
M.E. O’Brien
,
A.S. Weiss
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2001
30
Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population
D. Chevalier
,
D. Allorge
,
J.M. Lo-Guidice
,
C. Cauffiez
,
M. Lhermitte
,
J.J. Lafitte
,
F. Broly
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 17 KB
Your tags:
english, 2001
31
Five novel natural allelic variants—951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)—of the human CYP1A2 gene in a French Caucasian population
D. Chevalier
,
C. Cauffiez
,
D. Allorge
,
J.M. Lo-Guidice
,
M. Lhermitte
,
J.J. Lafitte
,
F. Broly
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 18 KB
Your tags:
english, 2001
32
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene
D. Feldmann
,
F. Laroze
,
C. Troadec
,
A. Clement
,
G. Tournier
,
R. Couderc
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2001
33
A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family
Yi-Ru Shi
,
Jer-Yuarn Wu
,
Fuu-Jen Tsai
,
Cheng-Chun Lee
,
Chang-Hai Tsai
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 15 KB
Your tags:
english, 2001
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