Identification of point mutations in 41 unrelated patients affected with Menkes disease.

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Article

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

American journal of human genetics - 1 Jan 1997

Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N

Abstract excerpt

Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). Using SSCP analysis and direct sequencing of the exons amplified by PCR, we identified 41 different muta...

Topics

Adenosine Triphosphatases
Carrier Proteins
Cation Transport Proteins
Child, Preschool
Copper-Transporting ATPases
DNA Mutational Analysis
Exons
Frameshift Mutation
Humans
Infant
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Menkes Kinky Hair Syndrome

Mutagenesis, Insertional

Phenotype

Point Mutation

Polymorphism, Single-Stranded Conformational

RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 8981948
PMCID: PMC1712537

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8981948-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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