Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number.

Kumar, Binod; Barton, Samantha; Kordowska, Jolanta; Eaton, Roger B; Counihan, Anne M; Hale, Jaime E; Comeau, Anne Marie

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number.

Kumar, Binod; Barton, Samantha; Kordowska, Jolanta; Eaton, Roger B; Counihan, Anne M; Hale, Jaime E; Comeau, Anne Marie.

Afiliación

Kumar B; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Barton S; Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Kordowska J; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Eaton RB; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Counihan AM; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Hale JE; Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Comeau AM; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.

Int J Neonatal Screen ; 7(3)2021 Jul 21.

Article en En | MEDLINE | ID: mdl-34449530

Palabras clave

SMA; SMN2; copy number; newborn screening; sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: Int J Neonatal Screen Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza

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