Two highly polymorphic CA repeats in the Menkes gene (ATP7A).

doi:10.1007/BF00210423

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Article

Two highly polymorphic CA repeats in the Menkes gene (ATP7A).

Human genetics - 1 Sept 1995

Begy C R, Dierick H A, Innis J W, Glover T W

Abstract excerpt

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'...

Topics

Adenosine Triphosphatases
Base Sequence
Carrier Proteins
Cation Transport Proteins
Chromosome Mapping
Copper-Transporting ATPases
Cutis Laxa
DNA Primers
Genetic Linkage
Heterozygote
Humans
Male
Menkes Kinky Hair Syndrome
Molecular Sequence Data
Pedigree
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 7649557
DOI: 10.1007/BF00210423

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7649557-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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