S-EPMC3882727 - Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. - OmicsDI

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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

ABSTRACT:

SUBMITTER: Hoover-Fong J

PROVIDER: S-EPMC3882727 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature