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Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
Iida, Aritoshi; Xing, Weirong; Docx, Martine K F; Nakashima, Tomoki; Wang, Zheng; Kimizuka, Mamori; Van Hul, Wim; Rating, Dietz; Spranger, Jürgen; Ohashi, Hirohumi; Miyake, Noriko; Matsumoto, Naomichi; Mohan, Subburaman; Nishimura, Gen; Mortier, Geert; Ikegawa, Shiro.
Afiliación
  • Iida A; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Xing W; Musculoskeletal Disease Center, Jerry L Pettis Memorial VA Medical Center, Loma Linda, California, USA Department of Medicine, Loma Linda University, Loma Linda, California, USA.
  • Docx MK; Department of Paediatric Chronic Diseases and Nephrology, Queen Paola Children's Hospital, Antwerp, Belgium.
  • Nakashima T; Department of Cell Signaling, Graduate school of Medical and Dental Science, Tokyo Medical and Dental University, Tokyo, Japan Japan Science and Technology Agency, PRESTO, Tokyo, Japan.
  • Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan State Key Laboratory of Medical Molecular Biology, McKusick-Zhang Center for Genetic Medicine and Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical Co
  • Kimizuka M; Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.
  • Van Hul W; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
  • Rating D; Department of Pediatrics, St Annastiftskinderkrankenhaus, Ludwigshafen, Germany.
  • Spranger J; Centre for Pediatrics and Adolescent Medicine, Freiburg, Germany.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mohan S; Musculoskeletal Disease Center, Jerry L Pettis Memorial VA Medical Center, Loma Linda, California, USA Department of Medicine, Loma Linda University, Loma Linda, California, USA.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
  • Mortier G; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.
J Med Genet ; 53(8): 568-74, 2016 08.
Article en En | MEDLINE | ID: mdl-27055475
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Osteosclerosis / Proteínas Serina-Treonina Quinasas / Mutación Tipo de estudio: Diagnostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: J Med Genet Año: 2016 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Osteosclerosis / Proteínas Serina-Treonina Quinasas / Mutación Tipo de estudio: Diagnostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: J Med Genet Año: 2016 Tipo del documento: Article País de afiliación: Japón