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Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone‐rod dystrophy
Author(s) -
Wong C.K.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12353
Subject(s) - citation , library science , genetics , medicine , computer science , biology