Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy-Reference-Cited by-同舟云学术

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Published:2014-01 Issue:1 Volume:94 Page:113-119
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yamamoto Guilherme L.,Baratela Wagner A.R.,Almeida Tatiana F.,Lazar Monize,Afonso Clara L.,Oyamada Maria K.,Suzuki Lisa,Oliveira Luiz A.N.,Ramos Ester S.,Kim Chong A.,Passos-Bueno Maria Rita,Bertola Débora R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am. J. Med. Genet. A.,2011

2. Spondylometaphyseal dysplasia with cone-rod dystrophy;Walters;Am. J. Med. Genet. A.,2004

3. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy;Sousa;Am. J. Med. Genet. A.,2008

4. Spondylometaphyseal dysplasia with cone-rod dystrophy;Kitoh;Am. J. Med. Genet. A.,2011

5. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

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