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A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Miryounesi, Mohammad; Nikfar, Ali; Changi-Ashtiani, Majid; Shahrooei, Mohammad; Dinmohammadi, Hossein; Shahani, Tina; Zarvandi, Samira; Bahrami, Tahereh; Momenilandi, Mana; Rokni-Zadeh, Hassan.
Afiliação
  • Miryounesi M; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Nikfar A; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
  • Shahrooei M; Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium.
  • Dinmohammadi H; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.
  • Shahani T; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Zarvandi S; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Bahrami T; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Momenilandi M; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
  • Rokni-Zadeh H; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.
Ann Hum Genet ; 84(1): 102-106, 2020 01.
Article em En | MEDLINE | ID: mdl-31571209
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteosclerose / Proteínas Serina-Treonina Quinases / Mutação com Ganho de Função Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irã
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteosclerose / Proteínas Serina-Treonina Quinases / Mutação com Ganho de Função Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irã