Addendum: Technical standards and guidelines for spinal muscular atrophy testing.

Deignan, Joshua L; Astbury, Caroline; Behlmann, Andrea; Guha, Saurav; Monaghan, Kristin G; Reddi, Honey V; Seifert, Bryce A; Tayeh, Marwan; Wakeling, Erin

Deignan, Joshua L; Astbury, Caroline; Behlmann, Andrea; Guha, Saurav; Monaghan, Kristin G; Reddi, Honey V; Seifert, Bryce A; Tayeh, Marwan; Wakeling, Erin.

Afiliação

Deignan JL; Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, USA.
Astbury C; Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Behlmann A; PerkinElmer Genomics, Duluth, GA, USA.
Guha S; New York Genome Center, New York, NY, USA.
Monaghan KG; GeneDx, Gaithersburg, MD, USA.
Reddi HV; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Seifert BA; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.
Tayeh M; Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
Wakeling E; Detroit Medical Center, Detroit, MI, USA.

Genet Med ; 23(12): 2462, 2021 Dec.

Article em En | MEDLINE | ID: mdl-33046848

Assuntos

Atrofia Muscular Espinal; Testes Genéticos; Humanos; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

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