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Mutations in PCYT1A,Encoding a Key Regulator of Phosphatidylcholine Metabolism,Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy |
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| Authors: | Julie Hoover-Fong Nara Sobreira Julie Jurgens Peggy Modaff Carrie Blout Ann Moser Ok-Hwa Kim Tae-Joon Cho Sung?Yoon Cho Sang?Jin Kim Dong-Kyu Jin Hiroshi Kitoh Woong-Yang Park Hua Ling Kurt?N. Hetrick Kimberly?F. Doheny David Valle Richard?M. Pauli |
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