title: Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.
authors: John F. Kennedy Institute, Glostrup, Denmark.
authors: Z
authors: Z
authors: Tümer
authors: T
authors: T
authors: Tønnesen
authors: N
authors: N
authors: Horn
mesh_terms: 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
chemical_list: D003301:Copper Radioisotopes; D004247:DNA