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Volume 28; Issue 4
Main
Human Mutation
Volume 28; Issue 4
Human Mutation
Volume 28; Issue 4
1
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia
Marja Majava
,
Paul N. Bishop
,
Pasi Hägg
,
Paul G. Scott
,
Aine Rice
,
Chris Inglehearn
,
Christopher J. Hammond
,
Tim D. Spector
,
Leena Ala-Kokko
,
Minna Männikkö
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 972 KB
Your tags:
english, 2007
2
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C
Ermanna Rovida
,
Giuliana Merati
,
Pasqualina D'Ursi
,
Sara Zanardelli
,
Francesca Marino
,
Gessica Fontana
,
Giancarlo Castaman
,
Elena M. Faioni
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 536 KB
Your tags:
english, 2007
3
Response to: getting rid of the PMS2 pseudogenes: mission impossible?
Mark Clendenning
,
Albert de la Chapelle
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2007
4
Getting rid of the PMS2 pseudogenes: mission impossible?
Renée C. Niessen
,
Jan H. Kleibeuker
,
Paul O.J. Jager
,
Rolf H. Sijmons
,
Robert M.W. Hofstra
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 91 KB
Your tags:
english, 2007
5
Truncation of NHEJ1 in a patient with polymicrogyria
Vincent Cantagrel
,
Anne-Marie Lossi
,
Steven Lisgo
,
Chantal Missirian
,
Ana Borges
,
Nicole Philip
,
Carla Fernandez
,
Carlos Cardoso
,
Dominique Figarella-Branger
,
Anne Moncla
,
Susan Lindsay
,
William B. Do
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 463 KB
Your tags:
english, 2007
6
ZFHX1B mutations in patients with Mowat-Wilson syndrome
Florence Dastot-Le Moal
,
Meredith Wilson
,
David Mowat
,
Nathalie Collot
,
Florence Niel
,
Michel Goossens
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2007
7
Italian Rett database and biobank
Katia Sampieri
,
Ilaria Meloni
,
Elisa Scala
,
Francesca Ariani
,
Rossella Caselli
,
Chiara Pescucci
,
Ilaria Longo
,
Rosangela Artuso
,
Mirella Bruttini
,
Maria Antonietta Mencarelli
,
Caterina Speciale
,
Vince
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 387 KB
Your tags:
english, 2007
8
Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits
Mohammad R. Abdollahi
,
Rohan M. Lewis
,
Tom R. Gaunt
,
Debbie V.E. Cumming
,
Santiago Rodriguez
,
Matthew Rose-Zerilli
,
Andrew R. Collins
,
Holly E. Syddall
,
William M. Howell
,
Cyrus Cooper
,
Keith M. Godfr
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2007
9
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
Fransiska Malfait
,
Sofie Symoens
,
Julie De Backer
,
Trinh Hermanns-Lê
,
Natzi Sakalihasan
,
Charles M. Lapière
,
Paul Coucke
,
Anne De Paepe
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 423 KB
Your tags:
english, 2007
10
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies
Harald Bär
,
Bertrand Goudeau
,
Sarah Wälde
,
Monique Casteras-Simon
,
Norbert Mücke
,
Alexey Shatunov
,
Y. Paul Goldberg
,
Charles Clarke
,
Janice L. Holton
,
Bruno Eymard
,
Hugo A. Katus
,
Michel Fardeau
,
Lev
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 627 KB
Your tags:
english, 2007
11
RPGR mutation analysis and disease: an update
Xinhua Shu
,
Graeme C. Black
,
Jacqueline M. Rice
,
Niki Hart-Holden
,
Alison Jones
,
Anna O'Grady
,
Simon Ramsden
,
Alan F. Wright
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2007
12
Case–control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)
Sheila A. Fisher
,
Andrea Rivera
,
Lars G. Fritsche
,
Claudia N. Keilhauer
,
Peter Lichtner
,
Thomas Meitinger
,
Günther Rudolph
,
Bernhard H.F. Weber
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2007
13
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
Julie van der Zee
,
Isabelle Le Ber
,
Sebastian Maurer-Stroh
,
Sebastiaan Engelborghs
,
Ilse Gijselinck
,
Agnès Camuzat
,
Nathalie Brouwers
,
Rik Vandenberghe
,
Kristel Sleegers
,
Didier Hannequin
,
Bart Dermau
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 261 KB
Your tags:
english, 2007
14
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype
Wayne A. Cabral
,
Elena Makareeva
,
Anne D. Letocha
,
Nina Scribanu
,
Andrzej Fertala
,
Andrzej Steplewski
,
Douglas R. Keene
,
Anton V. Persikov
,
Sergey Leikin
,
Joan C. Marini
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 479 KB
Your tags:
english, 2007
15
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Isabelle Perrault
,
Nathalie Delphin
,
Sylvain Hanein
,
Sylvie Gerber
,
Jean-Louis Dufier
,
Olivier Roche
,
Sabine Defoort-Dhellemmes
,
Hélène Dollfus
,
Elisa Fazzi
,
Arnold Munnich
,
Josseline Kaplan
,
Jean-Mic
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 218 KB
Your tags:
english, 2007
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