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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong, Julie; Sobreira, Nara; Jurgens, Julie; Modaff, Peggy; Blout, Carrie; Moser, Ann; 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 F; Valle, David; Pauli, Richard M.
Afiliação
  • Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jhoover2@jhmi.edu.
  • Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Jurgens J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Modaff P; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
  • Blout C; McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Moser A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Kim OH; Department of Radiology, Ajou University Hospital, Suwon, Kyunggi 443-721, Korea.
  • Cho TJ; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul 110-744, Korea.
  • Cho SY; Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Gyeonggi-Do 471-701, Korea.
  • Kim SJ; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
  • Jin DK; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
  • Kitoh H; Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
  • Park WY; Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 440-746, Korea.
  • Ling H; Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
  • Hetrick KN; Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
  • Doheny KF; Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
  • Valle D; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pauli RM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
Am J Hum Genet ; 94(1): 105-12, 2014 Jan 02.
Article em En | MEDLINE | ID: mdl-24387990
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fosfatidilcolinas / Retinose Pigmentar / Colina-Fosfato Citidililtransferase / Mutação de Sentido Incorreto Limite: Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fosfatidilcolinas / Retinose Pigmentar / Colina-Fosfato Citidililtransferase / Mutação de Sentido Incorreto Limite: Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos