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Volume 28; Issue 3
Main
Human Mutation
Volume 28; Issue 3
Human Mutation
Volume 28; Issue 3
1
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE
Khalid K. Alharbi
,
Emmanuel Spanakis
,
Karen Tan
,
Matt J. Smith
,
Mohammed A. Aldahmesh
,
Sandra D. O'Dell
,
Avan Aihie Sayer
,
Debbie A. Lawlor
,
Shah Ebrahim
,
George Davey Smith
,
Stephen O'Rahilly
,
Sadaf
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2007
2
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays
Christopher M. Stanczak
,
Zugen Chen
,
Yao-Hua Zhang
,
Stanley F. Nelson
,
Edward R.B. McCabe
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2007
3
Transgenic mice carrying the H258N mutation in the gene encoding the β-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness
Stephen H. Tsang
,
Michael L. Woodruff
,
Lin Jun
,
Vinit Mahajan
,
Clyde K. Yamashita
,
Robert Pedersen
,
Chyuan-Sheng Lin
,
Stephen P. Goff
,
Thomas Rosenberg
,
Michael Larsen
,
Debora B. Farber
,
Steven Nusino
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 401 KB
Your tags:
english, 2007
4
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini
,
Antonella Forlino
,
Wayne A. Cabral
,
Aileen M. Barnes
,
James D. San Antonio
,
Sarah Milgrom
,
James C. Hyland
,
Jarmo Körkkö
,
Darwin J. Prockop
,
Anne De Paepe
,
Paul Coucke
,
Sofie Symoens
,
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 307 KB
Your tags:
english, 2007
5
Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
Petr Vyletal
,
Jitka Sokolová
,
David N. Cooper
,
Jan P. Kraus
,
Michael Krawczak
,
Guglielmina Pepe
,
Olga Rickards
,
Hans G. Koch
,
Michael Linnebank
,
Leo A. J. Kluijtmans
,
Henk J. Blom
,
Godfried H. J. Boer
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 391 KB
Your tags:
english, 2007
6
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
Giuseppe Zampino
,
Francesca Pantaleoni
,
Claudio Carta
,
Gilda Cobellis
,
Isabella Vasta
,
Cinzia Neri
,
Edgar A. Pogna
,
Emma De Feo
,
Angelica Delogu
,
Anna Sarkozy
,
Francesca Atzeri
,
Angelo Selicorni
,
Kath
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 339 KB
Your tags:
english, 2007
7
Schimke immunoosseous dysplasia: suggestions of genetic diversity
J. Marietta Clewing
,
Helen Fryssira
,
David Goodman
,
Sarah F. Smithson
,
Emily A. Sloan
,
Shu Lou
,
Yan Huang
,
Kunho Choi
,
Thomas Lücke
,
Harika Alpay
,
Jean-Luc André
,
Yumi Asakura
,
Nathalie Biebuyck-Gouge
Journal:
Human Mutation
Year:
2007
File:
PDF, 272 KB
Your tags:
2007
8
The interactive Factor H–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models
Rebecca E. Saunders
,
Cynthia Abarrategui-Garrido
,
Véronique Frémeaux-Bacchi
,
Elena Goicoechea de Jorge
,
Timothy H.J. Goodship
,
Margarita López Trascasa
,
Marina Noris
,
Isabel Maria Ponce Castro
,
Giusep
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 776 KB
Your tags:
english, 2007
9
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry
Eva Gross
,
Georg Hölzl
,
Norbert Arnold
,
Evelyn Hauenstein
,
Anja Jacobsen
,
Kathrin Schulze
,
Juliane Ramser
,
Alfons Meindl
,
Marion Kiechle
,
Peter J. Oefner
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2007
10
Genotype–phenotype correlations in hereditary familial retinoblastoma
Melissa Taylor
,
Catherine Dehainault
,
Laurence Desjardins
,
François Doz
,
Christine Levy
,
Xavier Sastre
,
Jérôme Couturier
,
Dominique Stoppa-Lyonnet
,
Claude Houdayer
,
Marion Gauthier-Villars
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2007
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