Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis-Reference-Cited by-同舟云学术

Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

Published:2016-10 Issue:4 Volume:99 Page:928-933
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Maluenda Jérôme,Manso Constance,Quevarec Loic,Vivanti Alexandre,Marguet Florent,Gonzales Marie,Guimiot Fabien,Petit Florence,Toutain Annick,Whalen Sandra,Grigorescu Romulus,Coeslier Anne Dieux,Gut Marta,Gut Ivo,Laquerrière Annie,Devaux Jérôme,Melki Judith

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Genetic aspects of arthrogryposis;Hall;Clin. Orthop. Relat. Res.,1985

2. A retrospective study of pregnancy complications among 828 cases of arthrogryposis;Fahy;Genet. Couns.,1990

3. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles;Hall;Eur. J. Med. Genet.,2014

4. ALOHOMORA: a tool for linkage analysis using 10K SNP array data;Rüschendorf;Bioinformatics,2005

5. Merlin--rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat. Genet.,2002

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