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Volume 14; Issue 2
Main
Human Mutation
Volume 14; Issue 2
Human Mutation
Volume 14; Issue 2
1
Update of the androgen receptor gene mutations database
Bruce Gottlieb
,
Lenore K. Beitel
,
Rose Lumbroso
,
Leonard Pinsky
,
Mark Trifiro
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 380 KB
Your tags:
english, 1999
2
Clinical spectrum of fibroblast growth factor receptor mutations
M.R. Passos-Bueno
,
W.R. Wilcox
,
E.W. Jabs
,
A.L. Sertié
,
L.G. Alonso
,
H. Kitoh
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 287 KB
Your tags:
english, 1999
3
Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene—Lessons for corneal amyloidogenesis
Helen S. Stewart
,
Alan E. Ridgway
,
Michael J. Dixon
,
Richard Bonshek
,
Rahat Parveen
,
Graeme Black
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 383 KB
Your tags:
english, 1999
4
Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane
Sebastian Beck
,
Deborah Penque
,
Susana Garcia
,
Anita Gomes
,
Carlos Farinha
,
Lucinda Mata
,
Sérgio Gulbenkian
,
Karin Gil-Ferreira
,
Ângela Duarte
,
Paula Pacheco
,
Celeste Barreto
,
Beatriz Lopes
,
José Cava
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 755 KB
Your tags:
english, 1999
5
A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon
Philippe Maillet
,
Nicole Dalla Venezia
,
Frédéric Lorenzo
,
Madeleine Morinière
,
Muriel Bozon
,
Bernard Noël
,
Jean Delaunay
,
Faouzi Baklouti
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 449 KB
Your tags:
english, 1999
6
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy
S. Castellví-Bel
,
S. Sheikhavandi
,
M. Telatar
,
L-Q. Tai
,
M. Hwang
,
Z. Wang
,
Z. Yang
,
R. Cheng
,
R.A. Gatti
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 314 KB
Your tags:
english, 1999
7
Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus
Torsten Schöneberg
,
Katharina Pasel
,
Volker von Baehr
,
Angela Schulz
,
Hans-Dieter Volk
,
Thomas Gudermann
,
Guido Filler
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 487 KB
Your tags:
english, 1999
8
Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes
Jinong Feng
,
Carolyn H. Buzin
,
Shih-Huey E. Tang
,
William A. Scaringe
,
Steve S. Sommer
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 282 KB
Your tags:
english, 1999
9
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome
Alice Abd El-Aleem
,
Matthias Karck
,
Axel Haverich
,
Jörg Schmidtke
,
Mine Arslan-Kirchner
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 20 KB
Your tags:
english, 1999
10
Identification of three novel mutations in the MYO7A gene
José M. Cuevas
,
C. Espinós
,
J.M. Millán
,
F. Sánchez
,
M.J. Trujillo
,
C. Ayuso
,
M. Beneyto
,
C. Nájera
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 96 KB
Your tags:
english, 1999
11
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease
Toshiyuki Yamamoto
,
Eiji Nanba
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 10 KB
Your tags:
english, 1999
12
A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
H. Mittre
,
A. Bahlous
,
N. Leporrier
,
P. Leymarie
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 9 KB
Your tags:
english, 1999
13
The protein truncation test: A review
Johan T. Den Dunnen
,
Gert-Jan B. Van Ommen
Journal:
Human Mutation
Year:
1999
Language:
english
File:
PDF, 258 KB
Your tags:
english, 1999
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