Two highly polymorphic CA repeats in the Menkes gene (ATP7A)
Copyright policy )Two highly polymorphic CA repeats in the Menkes gene (ATP7A)
Two highly polymorphic CA repeats have been identified in the Menkes gene (ATP7A). These repeats should be useful for prenatal diagnosis and carrier detection in families with Menkes disease and X-linked cutis laxa. The observed heterozygosity for these two repeats was 0.778 and 0.60 in Centre d'Etude du Polymorphisme Humaine (CEPH) families.
- University of Michigan–Flint United States
- University of Michigan United States
- University of Michigan–Ann Arbor United States
Male, Heterozygote, Genetic Linkage, Science, Recombinant Fusion Proteins, Molecular Sequence Data, Polymerase Chain Reaction, Cutis Laxa, Metabolic Diseases, Health Sciences, Internal Medicine, Genetics, Humans, Cellular and Developmental Biology, Menkes Kinky Hair Syndrome, Cation Transport Proteins, DNA Primers, Repetitive Sequences, Nucleic Acid, Adenosine Triphosphatases, Polymorphism, Genetic, Base Sequence, Molecular, Chromosome Mapping, Human Genetics, Pedigree, Biomedicine, Biological Chemistry, Phenotype, Copper-Transporting ATPases, Molecular Medicine, Carrier Proteins
Male, Heterozygote, Genetic Linkage, Science, Recombinant Fusion Proteins, Molecular Sequence Data, Polymerase Chain Reaction, Cutis Laxa, Metabolic Diseases, Health Sciences, Internal Medicine, Genetics, Humans, Cellular and Developmental Biology, Menkes Kinky Hair Syndrome, Cation Transport Proteins, DNA Primers, Repetitive Sequences, Nucleic Acid, Adenosine Triphosphatases, Polymorphism, Genetic, Base Sequence, Molecular, Chromosome Mapping, Human Genetics, Pedigree, Biomedicine, Biological Chemistry, Phenotype, Copper-Transporting ATPases, Molecular Medicine, Carrier Proteins
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