Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
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ABSTRACT:
SUBMITTER: Hoover-Fong J
PROVIDER: S-EPMC3882727 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong Julie J Sobreira Nara N Jurgens Julie J Modaff Peggy P Blout Carrie C Moser Ann A Kim Ok-Hwa OH Cho Tae-Joon TJ Cho Sung Yoon SY Kim Sang Jin SJ Jin Dong-Kyu DK Kitoh Hiroshi H Park Woong-Yang WY Ling Hua H Hetrick Kurt N KN Doheny Kimberly F KF Valle David D Pauli Richard M RM
American journal of human genetics 20140101 1
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