Targeted next generation sequencing for newborn screening of Menkes disease.

Parad, Richard B; Kaler, Stephen G; Mauceli, Evan; Sokolsky, Tanya; Yi, Ling; Bhattacharjee, Arindam

Parad, Richard B; Kaler, Stephen G; Mauceli, Evan; Sokolsky, Tanya; Yi, Ling; Bhattacharjee, Arindam.

Afiliación

Parad RB; Department of Pediatric Newborn Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, United States of America.
Kaler SG; Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, United States of America.
Mauceli E; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, United States of America.
Sokolsky T; Parabase Genomics, Inc., Boston, MA, United States of America.
Yi L; Parabase Genomics, Inc., Boston, MA, United States of America.
Bhattacharjee A; Baebies, Inc., Durham, NC, United States of America.

Mol Genet Metab Rep ; 24: 100625, 2020 Sep.

Article en En | MEDLINE | ID: mdl-32714836

Palabras clave

ATP7A; Dried blood spots; Menkes disease; Molecular genetics; Newborn screening; Targeted next generation sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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