Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

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Detalles Bibliográficos
Main Authors: Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Pauli, Richard M.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2014
Assuntos:
Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882727/
https://ncbi.nlm.nih.gov/pubmed/24387990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.11.018
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