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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah, Ili Syazwana; Teh, Ser-Huy; Khaidizar, Fiqri Dizar; Ngu, Lock-Hock; Keng, Wee-Teik; Yap, Sufin; Mohamed, Zulqarnain.
Afiliação
  • Abdullah IS; Genetics and Molecular Biology Unit, Institute of Biological Sciences, Faculty of Science, University of Malaya, 50603, Kuala Lumpur, Malaysia.
  • Teh SH; Genetics and Molecular Biology Unit, Institute of Biological Sciences, Faculty of Science, University of Malaya, 50603, Kuala Lumpur, Malaysia.
  • Khaidizar FD; Centre for Research in Biotechnology for Agriculture, University of Malaya, 50603, Kuala Lumpur, Malaysia.
  • Ngu LH; Genetics Department, Kuala Lumpur Hospital, 50586, Kuala Lumpur, Malaysia.
  • Keng WT; Genetics Department, Kuala Lumpur Hospital, 50586, Kuala Lumpur, Malaysia.
  • Yap S; Division of Inherited Metabolic Disorders, Department of Paediatrics, University Malaya Medical Centre and Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
  • Mohamed Z; Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, NHS Foundation Trust, Western Bank, S10 2TH, Sheffield, UK.
Genes Genomics ; 41(8): 885-893, 2019 08.
Article em En | MEDLINE | ID: mdl-31028654

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo III / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Genomics Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Malásia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo III / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Genomics Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Malásia