A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Anderson, S L; Jalas, C; Fedick, A; Reid, K F; Carpenter, T O; Chirnomas, D; Treff, N R; Ekstein, J; Rubin, B Y

Anderson, S L; Jalas, C; Fedick, A; Reid, K F; Carpenter, T O; Chirnomas, D; Treff, N R; Ekstein, J; Rubin, B Y.

Afiliação

Anderson SL; Department of Biological Sciences, Fordham University, Bronx, NY, 10458, USA.
Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, 11204, USA.
Fedick A; Department of Microbiology and Molecular Genetics, Rutgers-Robert Wood Johnson Medical School, Piscataway, NJ, 08854, USA.
Reid KF; Department of Biological Sciences, Fordham University, Bronx, NY, 10458, USA.
Carpenter TO; Yale University School of Medicine, Departments of Pediatrics (Endocrinology) and Orthopedics and Rehabilitation, New Haven, CT, 06520, USA.
Chirnomas D; Yale University School of Medicine, Departments of Pediatrics (Endocrinology) and Orthopedics and Rehabilitation, New Haven, CT, 06520, USA.
Treff NR; Department of Microbiology and Molecular Genetics, Rutgers-Robert Wood Johnson Medical School, Piscataway, NJ, 08854, USA.
Ekstein J; Reproductive Medicine Associates of New Jersey, Department of Research, Morristown, NJ, 07960, USA.
Rubin BY; Dor Yeshorim, The Committee for Prevention of Jewish Diseases, Brooklyn, NY, 11211, USA.

Clin Genet ; 88(1): 74-9, 2015 Jul.

Article em En | MEDLINE | ID: mdl-24989235

Assuntos

Efeito Fundador; Osteopetrose/genética; Mutação Puntual; Sítios de Splice de RNA/genética; ATPases Vacuolares Próton-Translocadoras/genética; Análise Mutacional de DNA; Frequência do Gene; Humanos; Lactente; Íntrons; Judeus/genética

Palavras-chave

Ashkenazi Jewish; TCIRG1; founder mutation; osteopetrosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Mutação Puntual / Efeito Fundador / Sítios de Splice de RNA / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Etiology_studies Limite: Humans / Infant Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos

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