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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Authors
Adzhubei
Agassandian
+63 more
Ann Moser
Braverman
Bridges
Carmignac
Carrie Blout
Carter
Cremers
David Valle
DePristo
Ding
Dong-Kyu Jin
Ehara
Fagone
Friedman
Frischmeyer
Gerull
Glunde
Goss
Hackman
Hamel
Hamosh
Herman
Herman
Hiroshi Kitoh
Hua Ling
Hubbard
Isidor
Itoh-Satoh
Jacobs
Julie Hoover-Fong
Julie Jurgens
Kent
Kimberly F. Doheny
Kitoh
Kumar
Kurt N. Hetrick
Lange
LaVail
Lee
Li
Li
Lopes
McKenna
Mitsuhashi
Nara Sobreira
Ok-Hwa Kim
Peggy Modaff
Richard M. Pauli
Ridsdale
Sang Jin Kim
Satoh
Sousa
Sung Yoon Cho
Tae-Joon Cho
Tian
Turell
Walters
Wang
Warman
Woong-Yang Park
Yang
Zhang
Zhang
Publication date
Publisher
'Elsevier BV'
Doi
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Abstract
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info:doi/10.1016%2Fj.ajhg.2013...
Last time updated on 25/02/2019