| Autor: |
Young SG; Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608., Northey ST, McCarthy BJ |
| Jazyk: |
angličtina |
| Zdroj: |
Science (New York, N.Y.) [Science] 1988 Jul 29; Vol. 241 (4865), pp. 591-3. |
| DOI: |
10.1126/science.3399894 |
| Abstrakt: |
Familial hypobetalipoproteinemia is a syndrome in which the plasma levels of apolipoprotein B (apo-B) and cholesterol are abnormally low. A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia. DNA sequencing studies on genomic clones and enzymatically amplified genomic DNA samples revealed a four-base pair deletion in the apo-B gene. This short deletion, which results in a frameshift and a premature stop codon, accounts for the truncated apo-B species and explains the low apo-B and low cholesterol levels in this family. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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