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Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Nolin, Sarah L; Glicksman, Anne; Tortora, Nicole; Allen, Emily; Macpherson, James; Mila, Montserrat; Vianna-Morgante, Angela M; Sherman, Stephanie L; Dobkin, Carl; Latham, Gary J; Hadd, Andrew G.
Afiliação
  • Nolin SL; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
  • Glicksman A; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
  • Tortora N; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
  • Allen E; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Macpherson J; Wessex Regional Genetics Laboratory, Salisbury NHS District Hospital, Salisbury, United Kingdom.
  • Mila M; Biochemical and Molecular Genetics, Hospital Clinic de Barcelona, IDIBAPS and CIBERER, Barcelona, Spain.
  • Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de São Paulo, São Paulo, Brazil.
  • Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Dobkin C; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
  • Latham GJ; Asuragen, Inc., Austin, Texas.
  • Hadd AG; Asuragen, Inc., Austin, Texas.
Am J Med Genet A ; 179(7): 1148-1156, 2019 07.
Article em En | MEDLINE | ID: mdl-31050164
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Padrões de Herança / Alelos / Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Padrões de Herança / Alelos / Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Idioma: En Ano de publicação: 2019 Tipo de documento: Article