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Volume 7; Issue 2
Main
Human Mutation
Volume 7; Issue 2
Human Mutation
Volume 7; Issue 2
1
Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis
Michael L. Peacock
,
Marilyn J. Borst
,
Jason D. Sweet
,
Ruth A. Decker
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 465 KB
Your tags:
english, 1996
2
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection
Andreas Braun
,
Stefan Kammerer
,
Helmut Ambach
,
Adelbert A. Roscher
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 316 KB
Your tags:
english, 1996
3
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma
M.-P. Audrézet
,
M. Robaszkiewicz
,
B. Mercier
,
J.-B. Nousbaum
,
E. Hardy
,
J.-P. Bail
,
A. Volant
,
P. Lozac'h
,
H. Gouérou
,
C. Férec
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 468 KB
Your tags:
english, 1996
4
Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA
Kees L. Harteveld
,
Angelien J.G.A.M. Heister
,
Piero C. Giordano
,
Monique Losekoot
,
Luigi F. Bernini
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 807 KB
Your tags:
english, 1996
5
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
Seiji Fukuda
,
Shunji Tomatsu
,
Mitsuo Masuno
,
Tatsuya Ogawa
,
Atsushi Yamagishi
,
Golam Md. Maruf Rezvi
,
Kazuko Sukegawa
,
Nobuyuki Shimozawa
,
Yasuyuki Suzuki
,
Naomi Kondo
,
Kiyoshi Imaizumi
,
Yoshikazu Kur
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 1996
6
Mass allele detection (MAD) of rare 5-HT1A structural variants with allele-specific amplification and electrochemiluminescent detection
Andrew Bergen
,
Chang-Yu Wang
,
Bita Nakhai
,
David Goldman
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 665 KB
Your tags:
english, 1996
7
Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms
Mitsuyoshi Nakao
,
James S. Sutcliffe
,
Arthur L. Beaudet
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 489 KB
Your tags:
english, 1996
8
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome
Svetlana Tverskaya
,
Vlasta Bobrynina
,
Fatima Tsalykova
,
Maya Ignatova
,
Xenia Krasnopolskaya
,
Oleg Evgrafov
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 187 KB
Your tags:
english, 1996
9
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure
Samya Z. Nasr
,
Theresa V. Strong
,
Monique K. Mansoura
,
David C. Dawson
,
Francis S. Collins
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 357 KB
Your tags:
english, 1996
10
A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand
Manir Ali
,
Carolyn L. James
,
Timothy M. Cox
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 216 KB
Your tags:
english, 1996
11
Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy
Giovanni Manfredi
,
Eric A. Schon
,
Eduardo Bonilla
,
Carlos T. Moraes
,
Sara Shanske
,
Salvatore DiMauro
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 525 KB
Your tags:
english, 1996
12
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty
Sandro Cocco
,
Antonella Meloni
,
Maria Giuseppina Marini
,
Antonio Cao
,
Paolo Moi
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 229 KB
Your tags:
english, 1996
13
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease
Charles C. Tan
,
Peter J. Ainsworth
,
Angelika F. Hahn
,
Patrick M. MacLeod
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 480 KB
Your tags:
english, 1996
14
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
G. Perrin
,
M.A. Morris
,
S.E. Antonarakis
,
E. Boltshauser
,
P. Hutter
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 269 KB
Your tags:
english, 1996
15
Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds
Helen A. Ireland
,
Michael D. Boisclair
,
Julia Taylor
,
Elizabeth Thompson
,
Swee Lay Thein
,
Antonio Girolami
,
Maurizio De Caterina
,
Francesco Scopacasa
,
Valerio De Stefano
,
Giuseppe Leone
,
Guido Finazzi
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 384 KB
Your tags:
english, 1996
16
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa
Salud Borrego
,
Beatriz Sánchez
,
Agustín Ruiz
,
Guillermo Antiñolo
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 216 KB
Your tags:
english, 1996
17
A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome
Dezsö David
,
Ulrike Orth
,
Helmut Heilbronner
,
Andreas Gal
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 215 KB
Your tags:
english, 1996
18
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
Thierry Bienvenu
,
Dominique Hubert
,
Eric Setbon
,
Daniel Dusser
,
Jean-Claude Kaplan
,
Cherif Beldjord
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 106 KB
Your tags:
english, 1996
19
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Klaus Wagner
,
Petra Schneditz
,
Walter Rosenkranz
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1996
20
Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg
Birgit S. Gathof
,
Jan Geissler
,
Anne M. Wingen
,
Ursula Gresser
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 108 KB
Your tags:
english, 1996
21
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene
Roger L. Martin
,
Ian Walpole
,
Jack Goldblatt
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1996
22
Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta
Jiapiao Zhuang
,
Gerard Tromp
,
Helena Kuivaniemi
,
Salvador Castells
,
Merete Bugge
,
Darwin J. Prockop
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 1004 KB
Your tags:
english, 1996
23
Masthead
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1996
24
A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa
Beatriz Sánchez
,
Salud Borrego
,
Pedro Chaparro
,
Trinidad Rueda
,
Francisca López
,
Guillermo Antiñolo
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 109 KB
Your tags:
english, 1996
25
A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;
Hee Chan Seo
,
Meiheng Yang
,
Alex H. Kim
,
John S. O'Brien
,
Richard A. Dicioccio
,
Bruce A. Gordon
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1996
26
Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)
Romeo Carrozzo
,
Rossana Tonlorenzi
,
Fabio Corsolini
,
Rosanna Gatti
Journal:
Human Mutation
Year:
1996
Language:
english
File:
PDF, 192 KB
Your tags:
english, 1996
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