A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.

Kim, Sang-Mi; Noh, Eu Seon; Park, Jong-Ho; Park, Hyung-Doo; Lee, Soo-Youn; Jang, Ja-Hyun; Cho, Sung Yoon

Kim, Sang-Mi; Noh, Eu Seon; Park, Jong-Ho; Park, Hyung-Doo; Lee, Soo-Youn; Jang, Ja-Hyun; Cho, Sung Yoon.

Afiliação

Kim SM; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Noh ES; Department of Pediatrics, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Park JH; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.
Park HD; Clinical Genomics Center, Samsung Medical Center, Seoul, Korea.
Lee SY; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Cho SY; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Ann Hum Genet ; 86(6): 361-368, 2022 11.

Article em En | MEDLINE | ID: mdl-36000290

Assuntos

Condroitina Sulfatases; Mucopolissacaridose IV; Pré-Escolar; Humanos; Masculino; Acetilgalactosamina; Condroitina Sulfatases/genética; Códon sem Sentido; Glicosaminoglicanos; Sulfato de Queratano; Mucopolissacaridose IV/genética; Mucopolissacaridose IV/diagnóstico

Palavras-chave

GALNS; Morquio syndrome type A; Mucopolysaccharidosis type IVA; N-acetylgalactosamine 6-sulfatase; splicing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Condroitina Sulfatases / Mucopolissacaridose IV Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Ann Hum Genet Ano de publicação: 2022 Tipo de documento: Article

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