Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

Hale, Jaime E; Darras, Basil T; Swoboda, Kathryn J; Estrella, Elicia; Chen, Jin Yun Helen; Abbott, Mary-Alice; Hay, Beverly N; Kumar, Binod; Counihan, Anne M; Gerstel-Thompson, Jacalyn; Sahai, Inderneel; Eaton, Roger B; Comeau, Anne Marie

Hale, Jaime E; Darras, Basil T; Swoboda, Kathryn J; Estrella, Elicia; Chen, Jin Yun Helen; Abbott, Mary-Alice; Hay, Beverly N; Kumar, Binod; Counihan, Anne M; Gerstel-Thompson, Jacalyn; Sahai, Inderneel; Eaton, Roger B; Comeau, Anne Marie.

Afiliação

Hale JE; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Swoboda KJ; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Estrella E; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Chen JYH; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Abbott MA; Baystate Medical Center, Division of Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, MA 01199, USA.
Hay BN; Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Kumar B; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Counihan AM; Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Gerstel-Thompson J; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Sahai I; 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.
Comeau AM; Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA.

Int J Neonatal Screen ; 7(2)2021 May 23.

Article em En | MEDLINE | ID: mdl-34071063

Palavras-chave

SMN1 gene; SMN2 gene; Spinal Muscular Atrophy; newborn screening

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

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