𝔖 Bobbio Scriptorium
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Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

✍ Scribed by R. Vongsuvanh; A. J. Hooper; J. C. Coakley; J. S. Macdessi; E. V. O’Loughlin; J. R. Burnett; K. J. Gaskin


Book ID
106374284
Publisher
Springer
Year
2007
Tongue
English
Weight
156 KB
Volume
30
Category
Article
ISSN
0141-8955

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Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein (apo) B. Heterozygotes for FHBL have less-than-half normal LDL-cholesterol and apoB concentrations, whereas homo