Article
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.
Clinical genetics - 1 Aug 1992
Talmud P J, Converse C, Krul E, Huq L, McIlwaine G G, Series J J, Boyd P, Schonfeld G, Dunning A, Humphries S
Abstract excerpt
We have identified an apolipoprotein (apo) B mutation in a patient with an atypical form of retinitis pigmentosa (RP). In the family the eye disease is characterised by late age of onset and autosomal dominant inheritance. In addition to RP, the proband has low total cholesterol (4.5 mmol/l) and...
Topics
- Aged
- Aged, 80 and over
- Alleles
- Amino Acid Sequence
- Apolipoproteins B
- Apolipoproteins E
- Base Sequence
- Blotting, Northern
- Cholesterol
- Cholesterol, HDL
- Cholesterol, LDL
- Chromosome Mapping
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans