Article
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
Human molecular genetics - 1 Mar 1998
Qi M, Byers P H
Abstract excerpt
The ATP7A gene encodes a copper-transporting ATPase. Mutations in this gene result in two clinically distinct X-linked inherited disorders: Menkes disease and occipital horn syndrome (OHS). We identified a single exon skipping in the ATP7A transcript in cells from the affected proband, affected c...
Topics
- Adenosine Triphosphatases
- Adult
- Alternative Splicing
- Base Sequence
- Carrier Proteins
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- DNA Primers
- Ehlers-Danlos Syndrome
- Endoplasmic Reticulum Chaperone BiP
- Exons
- Female
- Genetic Variation
- Golgi Apparatus
- Humans
- Male
- Menkes Kinky Hair Syndrome