Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken

The Wisconsin hypoalpha mutant (WHAM) chicken has a >90% reduction in plasma HDL due to hypercatabolism by the kidney of lipid-poor apoA-I. The WHAM chickens have a recessive white skin phenotype caused by a single-gene mutation that maps to the chicken Z-chromosome. This corresponds to human 9q31.1...

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Principais autores:	Alan D. Attie, Yannick Hamon, Angela R. Brooks-Wilson, Mark P. Gray-Keller, Marcia L.E. MacDonald, Veronique Rigot, Angie Tebon, Lin-Hua Zhang, Jacob D. Mulligan, Roshni R. Singaraja, J.James Bitgood, Mark E. Cook, John J.P. Kastelein, Giovanna Chimini, Michael R. Hayden
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2002-10-01
coleção:	Journal of Lipid Research
Assuntos:	HDL hypoalphalipoproteinemia Tangier Disease
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S0022227520327802
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