Article
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
Nature genetics - 1 Oct 1994
Kaler S G, Gallo L K, Proud V K, Percy A K, Mark Y, Segal N A, Goldstein D S, Holmes C S, Gahl W A
Abstract excerpt
We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes. In one family, four males aged 2-36 years with a distinctive Menkes variant have a mutation at the +3 position of a splice donor site...
Topics
- Adenosine Triphosphatases
- Adolescent
- Animals
- Base Sequence
- Carrier Proteins
- Cation Transport Proteins
- Cells, Cultured
- Ceruloplasmin
- Copper
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Dihydroxyphenylalanine
- Ehlers-Danlos Syndrome
- Exons
- Female
- Fibroblasts
- Humans
- Male