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Volume 29; Issue 12
Main
Human Mutation
Volume 29; Issue 12
Human Mutation
Volume 29; Issue 12
1
Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms
Simon Mead
,
Mark Poulter
,
John Beck
,
James Uphill
,
Chris Jones
,
Cheng Eng Ang
,
Charles A. Mein
,
John Collinge
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 201 KB
Your tags:
english, 2008
2
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
Dianalee A. McKnight
,
P. Suzanne Hart
,
Thomas C. Hart
,
James K. Hartsfield
,
Anne Wilson
,
J. Timothy Wright
,
Larry W. Fisher
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 518 KB
Your tags:
english, 2008
3
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update
I. Gijselinck
,
C. Van Broeckhoven
,
M. Cruts
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2008
4
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
Chunyan Mou
,
Helen A. Thomason
,
Pamela M. Willan
,
Christopher Clowes
,
W. Edwin Harris
,
Caroline F. Drew
,
Jill Dixon
,
Michael J. Dixon
,
Denis J. Headon
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 328 KB
Your tags:
english, 2008
5
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
Isabelle Tournier
,
Myriam Vezain
,
Alexandra Martins
,
Françoise Charbonnier
,
Stéphanie Baert-Desurmont
,
Sylviane Olschwang
,
Qing Wang
,
Marie Pierre Buisine
,
Johann Soret
,
Jamal Tazi
,
Thierry Frébourg
,
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2008
6
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme
Wendy E. Kutz
,
Lauren W. Wang
,
Nathalie Dagoneau
,
Kazimir J. Odrcic
,
Valerie Cormier-Daire
,
Elias I. Traboulsi
,
Suneel S. Apte
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 430 KB
Your tags:
english, 2008
7
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
Dustin Baldridge
,
Ulrike Schwarze
,
Roy Morello
,
Jennifer Lennington
,
Terry K. Bertin
,
James M. Pace
,
Melanie G. Pepin
,
MaryAnn Weis
,
David R. Eyre
,
Jennifer Walsh
,
Deborah Lambert
,
Andrew Green
,
Hayne
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 401 KB
Your tags:
english, 2008
8
Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma
Chunying Li
,
Hui Zhao
,
Zhibin Hu
,
Zhensheng Liu
,
Li-E Wang
,
Jeffrey E. Gershenwald
,
Victor G. Prieto
,
Jeffrey E. Lee
,
Madeleine Duvic
,
Elizabeth A. Grimm
,
Qingyi Wei
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2008
9
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals
Doron M. Behar
,
Jason Blue-Smith
,
David F. Soria-Hernanz
,
Shay Tzur
,
Yarin Hadid
,
Concetta Bormans
,
Alexander Moen
,
Chris Tyler-Smith
,
Lluis Quintana-Murci
,
R. Spencer Wells
Journal:
Human Mutation
Year:
2008
Language:
english
File:
PDF, 182 KB
Your tags:
english, 2008
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