Your browser doesn't support javascript.
loading
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.
Lau, Nike Kwai Cheung; Ching, Chor Kwan; Lee, Hencher Han Chih; Chak, Wai Kwong Mario; Kwan Shing, Ng; Hanchard, Neil A; Mak, Chloe Miu.
Afiliação
  • Lau NKC; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address: lkc416@ha.org.hk.
  • Ching CK; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address: chingck2@ha.org.hk.
  • Lee HHC; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address: leehch@ha.org.hk.
  • Chak WKM; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong. Electronic address: chakwk@ha.org.hk.
  • Kwan Shing N; Department of Pathology, Tuen Mun Hospital, Hong Kong. Electronic address: nks422@ha.org.hk.
  • Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: hanchard@bcm.edu.
  • Mak CM; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address: makm@ha.org.hk.
Clin Chim Acta ; 486: 151-155, 2018 Nov.
Article em En | MEDLINE | ID: mdl-30053402
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Glicoproteínas de Membrana / Processamento Alternativo / DNA Complementar / Chaperonas Moleculares / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Clin Chim Acta Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Glicoproteínas de Membrana / Processamento Alternativo / DNA Complementar / Chaperonas Moleculares / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Clin Chim Acta Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda