RFT1-CDG in adult siblings with novel mutations

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 760-762

  Ondruskova, Nina ^a   Vesela, Katerina ^a   Hansikova, Hana ^a   Magner, Martin ^a   Zeman, Jiri ^a   Honzik, Tomas ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Deafness; Lipid linked oligosaccharide; RFT1 CDG

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; DEVELOPMENTAL DISORDER; EPILEPSY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GENE; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RFT1 GENE; THROMBOSIS; VISUAL ACUITY; VISUAL IMPAIRMENT;

CONGENITAL DISORDERS OF GLYCOSYLATION; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; SIBLINGS; YOUNG ADULT;

EID: 84869865134     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.002     Document Type: Article

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