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