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

✍ Scribed by 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.

• Book ID: 122133829
• Publisher: American Society of Human Genetics
• Year: 2014
• Tongue: English
• Weight: 547 KB
• Volume: 94
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2013.11.018