Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita-Reference-Cited by-同舟云学术

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Published:2015-06 Issue:6 Volume:96 Page:955-961
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ravenscroft Gianina,Nolent Flora,Rajagopalan Sulekha,Meireles Ana M.,Paavola Kevin J.,Gaillard Dominique,Alanio Elisabeth,Buckland Michael,Arbuckle Susan,Krivanek Michael,Maluenda Jérome,Pannell Stephen,Gooding Rebecca,Ong Royston W.,Allcock Richard J.,Carvalho Ellaine D.F.,Carvalho Maria D.F.,Kok Fernando,Talbot William S.,Melki Judith,Laing Nigel G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

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2. Arthrogryposis and fetal hypomobility syndrome;Haliloglu;Handb. Clin. Neurol.,2013

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

4. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy;Gupta;Am. J. Hum. Genet.,2013

5. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects;Laquérriere;Hum. Mol. Genet.,2014

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