Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Málaga, Diana Rojas; Brusius-Facchin, Ana Carolina; Siebert, Marina; Pasqualim, Gabriela; Saraiva-Pereira, Maria Luiza; Souza, Carolina F M de; Schwartz, Ida V D; Matte, Ursula; Giugliani, Roberto

Málaga, Diana Rojas; Brusius-Facchin, Ana Carolina; Siebert, Marina; Pasqualim, Gabriela; Saraiva-Pereira, Maria Luiza; Souza, Carolina F M de; Schwartz, Ida V D; Matte, Ursula; Giugliani, Roberto.

Afiliación

Málaga DR; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Brusius-Facchin AC; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Siebert M; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Pasqualim G; Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Saraiva-Pereira ML; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Souza CFM; Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Schwartz IVD; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Matte U; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Giugliani R; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.

Genet Mol Biol ; 42(1 suppl 1): 197-206, 2019.

Article en En | MEDLINE | ID: mdl-30985853

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Genet Mol Biol Año: 2019 Tipo del documento: Article País de afiliación: Brasil

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