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Volume 28; Issue 8
Main
Human Mutation
Volume 28; Issue 8
Human Mutation
Volume 28; Issue 8
1
Effective detection of corrected dystrophin loci in mdx mouse myogenic precursors
Marian Todaro
,
Anita Quigley
,
Magdalena Kita
,
Judy Chin
,
Kym Lowes
,
Andrew J. Kornberg
,
Mark J. Cook
,
Robert Kapsa
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 337 KB
Your tags:
english, 2007
2
Night blindness–associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
Christina Zeitz
,
Ursula Forster
,
John Neidhardt
,
Silke Feil
,
Stefan Kälin
,
Dorothee Leifert
,
Peter J. Flor
,
Wolfgang Berger
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 454 KB
Your tags:
english, 2007
3
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry
James German
,
Maureen M. Sanz
,
Susan Ciocci
,
Tian Z. Ye
,
Nathan A. Ellis
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 293 KB
Your tags:
english, 2007
4
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature
Dongqing Gu
,
William A. Scaringe
,
Kai Li
,
Juan-Sebastian Saldivar
,
Kathleen A. Hill
,
Zhenbin Chen
,
Kelly D. Gonzalez
,
Steve S. Sommer
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 331 KB
Your tags:
english, 2007
5
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
David Baux
,
Lise Larrieu
,
Catherine Blanchet
,
Christian Hamel
,
Safouane Ben Salah
,
Anne Vielle
,
Brigitte Gilbert-Dussardier
,
Muriel Holder
,
Patrick Calvas
,
Nicole Philip
,
Patrick Edery
,
Dominique Bonn
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 362 KB
Your tags:
english, 2007
6
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
L. de Pontual
,
A. Pelet
,
M. Clement-Ziza
,
D. Trochet
,
S.E. Antonarakis
,
T. Attie-Bitach
,
P.L. Beales
,
J.-L. Blouin
,
F. Dastot-Le Moal
,
H. Dollfus
,
M. Goossens
,
N. Katsanis
,
R. Touraine
,
J. Feingold
,
A
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2007
7
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene
Ljubica Caldovic
,
Hiroki Morizono
,
Mendel Tuchman
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 617 KB
Your tags:
english, 2007
8
Identification and characterization of a novel RPGR isoform in human retina
John Neidhardt
,
Esther Glaus
,
Daniel Barthelmes
,
Christina Zeitz
,
Johannes Fleischhauer
,
Wolfgang Berger
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2007
9
Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations
Gila Idelman
,
James G. Taylor
,
Ron Tongbai
,
Renee A. Chen
,
Cynthia M. Haggerty
,
Sven Bilke
,
Stephen J. Chanock
,
Kevin Gardner
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 276 KB
Your tags:
english, 2007
10
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
Ulf-Peter Guenther
,
Raymonda Varon
,
Maria Schlicke
,
Véronique Dutrannoy
,
Alexander Volk
,
Christoph Hübner
,
Katja von Au
,
Markus Schuelke
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 311 KB
Your tags:
english, 2007
11
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
Wiktor Borozdin
,
John M. Graham Jr.
,
Detlef Böhm
,
Michael J. Bamshad
,
Stefanie Spranger
,
Leah Burke
,
Michael Leipoldt
,
Jürgen Kohlhase
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 452 KB
Your tags:
english, 2007
12
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response
Ines Dierick
,
Joy Irobi
,
Sophie Janssens
,
Jessie Theuns
,
Robin Lemmens
,
An Jacobs
,
Ellen Corsmit
,
Nicole Hersmus
,
Ludo Van Den Bosch
,
Wim Robberecht
,
Peter De Jonghe
,
Christine Van Broeckhoven
,
Vincen
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 289 KB
Your tags:
english, 2007
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