Your browser doesn't support javascript.
loading
Case report of a child bearing a novel deleterious splicing variant in PIGT.
Mason, Samantha; Castilla-Vallmanya, Laura; James, Con; Andrews, P Ian; Balcells, Susana; Grinberg, Daniel; Kirk, Edwin P; Urreizti, Roser.
Afiliação
  • Mason S; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, Institut de Recerca Sant Joan de Déu (IRSJD), CIBERER, Barcelona, Spain.
  • James C; Department of General Paediatrics.
  • Andrews PI; Department of Neurology, Sydney Children's Hospital.
  • Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, Institut de Recerca Sant Joan de Déu (IRSJD), CIBERER, Barcelona, Spain.
  • Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, Institut de Recerca Sant Joan de Déu (IRSJD), CIBERER, Barcelona, Spain.
  • Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Urreizti R; NSW Health Pathology East, Genetics Laboratory.
Medicine (Baltimore) ; 98(8): e14524, 2019 Feb.
Article em En | MEDLINE | ID: mdl-30813157
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Aciltransferases Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Aciltransferases Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article