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Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
Ghosh, Arunabha; Urquhart, Jill; Daly, Sarah; Ferguson, Anne; Scotcher, Diana; Morris, Andrew A M; Clayton-Smith, Jill.
Affiliation
  • Ghosh A; 1 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Urquhart J; 2 School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Daly S; 3 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Ferguson A; 3 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Scotcher D; 4 Community Paediatrics, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Morris AAM; 3 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Clayton-Smith J; 1 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
J Child Neurol ; 32(6): 560-565, 2017 05.
Article in En | MEDLINE | ID: mdl-28424003
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Polymorphism, Single Nucleotide / Hexosyltransferases / Membrane Proteins Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2017 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Polymorphism, Single Nucleotide / Hexosyltransferases / Membrane Proteins Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2017 Document type: Article Affiliation country: Country of publication: