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Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi, Alana C; Vengoechea, Elizabeth S; Kaseniit, Kristjan E; Hardy, Melanie W; Kiger, Laura A; Mehta, Nikita; Haque, Imran S; Moyer, Krista; Page, Patricia Z; Muzzey, Dale; Grinzaid, Karen A.
Afiliación
  • Cecchi AC; Myriad Women's Health, South San Francisco, California.
  • Vengoechea ES; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Kaseniit KE; Myriad Women's Health, South San Francisco, California.
  • Hardy MW; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Kiger LA; Myriad Women's Health, South San Francisco, California.
  • Mehta N; Myriad Women's Health, South San Francisco, California.
  • Haque IS; Myriad Women's Health, South San Francisco, California.
  • Moyer K; Myriad Women's Health, South San Francisco, California.
  • Page PZ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Muzzey D; Myriad Women's Health, South San Francisco, California.
  • Grinzaid KA; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Mol Genet Genomic Med ; 7(8): e836, 2019 08.
Article en En | MEDLINE | ID: mdl-31293106
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Tay-Sachs / Cadena alfa de beta-Hexosaminidasa / Pruebas de Enzimas / Secuenciación de Nucleótidos de Alto Rendimiento / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Evaluation_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Tay-Sachs / Cadena alfa de beta-Hexosaminidasa / Pruebas de Enzimas / Secuenciación de Nucleótidos de Alto Rendimiento / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Evaluation_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article