Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.
Tümer
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John F. Kennedy Institute, Glostrup, Denmark.
Tønnesen
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Horn
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D015139:Blotting, Southern; D003301:Copper Radioisotopes; D004247:DNA / Q000032:analysis; D005347:Fibroblasts / Q000378:metabolism; D006580:Genetic Carrier Screening; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D014960:X Chromosome / Q000648:ultrastructure
D003301:Copper Radioisotopes; D004247:DNA