Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.
J Med Genet
; 20(3): 189-95, 1983 Jun.
Article
em En
| MEDLINE
| ID: mdl-6876109
A hypobetalipoproteinaemic kindred is described in which the proband manifested the clinical and biochemical features of the homozygous state. Unlike the apparent complete absence of apolipoprotein B in the plasma of the five cases of homozygous hypobetalipoproteinaemia reported so far, we were able to demonstrate minute quantities of this protein (approximately 0.025% of normal) in the plasma of the proband. This finding suggests that the disorder may not result from a structural gene defect but may rather reflect a failure of secretion.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apolipoproteínas
/
Hipobetalipoproteinemias
/
Hipolipoproteinemias
Limite:
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1983
Tipo de documento:
Article