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Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
Guo, Long; Girisha, Katta M; Iida, Aritoshi; Hebbar, Malavika; Shukla, Anju; Shah, Hitesh; Nishimura, Gen; Matsumoto, Naomichi; Nismath, Shifa; Miyake, Noriko; Ikegawa, Shiro.
Afiliação
  • Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Iida A; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Hebbar M; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Shah H; Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nismath S; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, Manipal, India.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
J Hum Genet ; 62(3): 437-441, 2017 Mar.
Article em En | MEDLINE | ID: mdl-27829680
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteosclerose / Proteínas Serina-Treonina Quinases / Acro-Osteólise / Fraturas Ósseas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteosclerose / Proteínas Serina-Treonina Quinases / Acro-Osteólise / Fraturas Ósseas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão