Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
- 期刊名称The American Journal of Human Genetics
- 作者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.
- 卷第94卷
- 期第1期
- 印刷ISSN0002-9297
- 文件大小546.81KB
- 发表时间2014-01
- DOI10.1016/j.ajhg.2013.11.018
- 页码105-112
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