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Volume 17; Issue 1
Main
Human Mutation
Volume 17; Issue 1
Human Mutation
Volume 17; Issue 1
1
Ourania Horaitis: Linking Human Mutation and the HUGO-Mutation Database Initiative
Mark H. Paalman
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 63 KB
Your tags:
english, 2001
2
Jagged1 mutations in Alagille syndrome
Nancy B. Spinner
,
Raymond P. Colliton
,
Cécile Crosnier
,
Ian D. Krantz
,
Michelle Hadchouel
,
Michèle Meunier-Rotival
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2001
3
Factor VII deficiency and the FVII mutation database
John H. McVey
,
Emma Boswell
,
Andrew D. Mumford
,
Geoffrey Kemball-Cook
,
Edward G.D. Tuddenham
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 476 KB
Your tags:
english, 2001
4
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
Ingrid Zwaenepoel
,
Elisabeth Verpy
,
Stéphane Blanchard
,
Moritz Meins
,
Eckart Apfelstedt-Sylla
,
Andreas Gal
,
Christine Petit
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2001
5
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Melanie M. Sohocki
,
Stephen P. Daiger
,
Sara J. Bowne
,
Joseph A. Rodriquez
,
Hope Northrup
,
John R. Heckenlively
,
David G. Birch
,
Helen Mintz-Hittner
,
Richard S. Ruiz
,
Richard A. Lewis
,
David A. Saperst
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2001
6
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes
Anna Jakubowska
,
Bohdan Górski
,
Grzegorz Kurzawski
,
Tadeusz Debniak
,
Piotr Hadaczek
,
Cezary Cybulski
,
Józef Kladny
,
Oleg Oszurek
,
Rodney J. Scott
,
Jan Lubinski
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2001
7
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
Christiane Duponchel
,
Christiana Di Rocco
,
Marco Cicardi
,
Mario Tosi
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 408 KB
Your tags:
english, 2001
8
Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
E. Akar
,
F. Yalcinkaya
,
N. Akar
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 13 KB
Your tags:
english, 2001
9
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome
Ritsu Matsukawa
,
Kazuki Iida
,
Masako Nakayama
,
Tsunehiro Mukai
,
Yutaka Okita
,
Motomi Ando
,
Shinichi Takamoto
,
Nobuyuki Nakajima
,
Hiroko Morisaki
,
Takayuki Morisaki
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2001
10
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15
Marek Bodzioch
,
Katarzyna Lapicka
,
Charalampos Aslanidis
,
Marek Kacinski
,
Gerd Schmitz
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2001
11
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome
Cécile Crosnier
,
Catherine Driancourt
,
Nicole Raynaud
,
Michelle Hadchouel
,
Michèle Meunier-Rotival
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2001
12
BRCA2 germline mutations in male breast cancer patients in the Polish population
Eliza Kwiatkowska
,
Marek Teresiak
,
Katarzyna M. Lamperska
,
Aldona Karczewska
,
Danuta Breborowicz
,
Malgorzata Stawicka
,
Dariusz Godlewski
,
Wlodzimierz J. Krzyzosiak
,
Andrzej Mackiewicz
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 24 KB
Your tags:
english, 2001
13
Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families
Susan A.J. Vaziri
,
Lisa M. Krumroy
,
Majid Rostai
,
Graham Casey
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 29 KB
Your tags:
english, 2001
14
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum
Jérôme Perdu
,
Dominique P. Germain
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 28 KB
Your tags:
english, 2001
15
Prevalence of BRCA1 founder mutations in western Poland
Anna Jasinska
,
Wlodzimierz J. Krzyzosiak
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 37 KB
Your tags:
english, 2001
16
Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis
Geoff W. Birrell
,
Jonathan R. Ramsay
,
Jeffrey J. Tung
,
Martin F. Lavin
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 54 KB
Your tags:
english, 2001
17
Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
Jennifer R. Toone
,
Derek A. Applegarth
,
Marion B. Coulter-Mackie
,
Erick R. James
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 579 KB
Your tags:
english, 2001
18
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig
H. Bochmann
,
J. Geisel
,
W. Herrmann
,
T. Purcz
,
W. Reuter
,
U. Julius
,
W. Metzler
,
S. Bergmann
,
W. Jaross
,
S. Gehrisch
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 36 KB
Your tags:
english, 2001
19
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria
A.X. Acosta
,
W.A. Silva Jr.
,
T.M. Carvalho
,
M.A. Zago
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 15 KB
Your tags:
english, 2001
20
Novel mutations in the GALK1 gene in patients with galactokinase deficiency
Michael Hunter
,
Dora Angelicheva
,
Harvey L. Levy
,
Sigfried M. Pueschel
,
Luba Kalaydjieva
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 29 KB
Your tags:
english, 2001
21
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3
Yasukazu Yamada
,
Haruko Goto
,
Nobuaki Wakamatsu
,
Nobuaki Ogasawara
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2001
22
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms
Wataru Matsuyama
,
Masanori Nakagawa
,
Hiroshi Takashima
,
Fuminori Muranaga
,
Yuji Sano
,
Mitsuhiro Osame
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2001
23
Y688X, the first nonsense mutation in familial Mediterranean fever (FMF)
Cécile Notarnicola
,
Raffaele Manna
,
Jean Marc Rey
,
Isabelle Touitou
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 8 KB
Your tags:
english, 2001
24
Identification of two highly informative STRs (GT)15-25 and (GT)9-21 within the critical region of RP25
I. Marcos
,
S. Borrego
,
A. Ruiz
,
J.J. Galán
,
G. Antiñolo
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2001
25
A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease
Takehiko Matsumura
,
Hitoshi Osaka
,
Ken Inoue
,
Naoya Sugiyama
,
Hideki Onishi
,
Yoshiteru Yamada
,
Masaharu Hayashi
,
Kenji Kosaka
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 8 KB
Your tags:
english, 2001
26
A new Msp I polymorphism (g1741G>A) in intron 3 of the human d-aminolevulinate dehydratase gene
Bidyut Roy
,
Nilabja Sikdar
,
Samiran Ghosh
,
Partha P. Majumder
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2001
27
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families
María José Trujillo
,
María Martinez-Gimeno
,
Ascensión Giménez
,
Isabel Lorda
,
José Bueno
,
Blanca García-Sandoval
,
Carmen Ramos
,
Miguel Carballo
,
Carmen Ayuso
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2001
28
T>C transition in codon 72 (TCG→CCG), S72P, a putative hotspot in PMP22
Arif B. Ekici
,
Oksoon Park
,
Rudolf Korinthenberg
,
Holger Grehl
,
Bernd Rautenstrauß
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 8 KB
Your tags:
english, 2001
29
Identification of genetic variants (g789C>T and G111S) in the human HSPB2 gene
Axel Hahner
,
Jeanette Erdmann
,
Heike Kallisch
,
Eckart Fleck
,
Vera Regitz-Zagrosek
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2001
30
A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20
J. Dedic
,
A.S. Weiss
,
J. Katahira
,
B. Yu
,
R.J. Trent
,
Z. Urbán
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2001
31
A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
Mei-Chen Wu
,
Jer-Yuarn Wu
,
Cheng-Chun Lee
,
Chang-Hai Tsai
,
Fuu-Jen Tsai
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2001
32
A novel polymorphism IVS2+843C>T in the alternate promoter b1 of the human AE2 anion exchanger gene
Jon Lecanda
,
Raquel Urtasun
,
Sergio Recalde
,
Jesús Prieto
,
Juan F. Medina
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2001
33
A novel polymorphism (-88 C>A) in the 5′ UTR of the p53R2 gene
Johanna Smeds
,
Mariachiara Nava
,
Rajiv Kumar
,
Kari Hemminki
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 9 KB
Your tags:
english, 2001
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