• Mutation; HGNC; 4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from parent cell line).
  

DOI=10.5962/bhl.title.4090
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Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
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CLPUB00447
Mulivor R.A., Suchy S.F.
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(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=12361951; DOI=10.1074/jbc.M207937200
Donahue S.L., Campbell C.
A DNA double strand break repair defect in Fanconi anemia fibroblasts.
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