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

Julie E Hoover Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann B. 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 Doheny, David Valle, Richard M. Pauli

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)105-112
Number of pages8
JournalAmerican Journal of Human Genetics
Volume94
Issue number1
DOIs
StatePublished - Jan 2 2014

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Phosphatidylcholines
Mutation
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. / Hoover Fong, Julie E; Sobreira, Nara; Jurgens, Julie; Modaff, Peggy; Blout, Carrie; Moser, Ann B.; Kim, Ok Hwa; Cho, Tae Joon; Cho, Sung Yoon; Kim, Sang Jin; Jin, Dong Kyu; Kitoh, Hiroshi; Park, Woong Yang; Ling, Hua; Hetrick, Kurt N.; Doheny, Kimberly; Valle, David; Pauli, Richard M.

In: American Journal of Human Genetics, Vol. 94, No. 1, 02.01.2014, p. 105-112.

Research output: Contribution to journalArticle

Hoover Fong, Julie E ; Sobreira, Nara ; Jurgens, Julie ; Modaff, Peggy ; Blout, Carrie ; Moser, Ann B. ; Kim, Ok Hwa ; Cho, Tae Joon ; Cho, Sung Yoon ; Kim, Sang Jin ; Jin, Dong Kyu ; Kitoh, Hiroshi ; Park, Woong Yang ; Ling, Hua ; Hetrick, Kurt N. ; Doheny, Kimberly ; Valle, David ; Pauli, Richard M. / Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. In: American Journal of Human Genetics. 2014 ; Vol. 94, No. 1. pp. 105-112.
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AU - Blout, Carrie

AU - Moser, Ann B.

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