A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene / 대한내과학회지
Korean Journal of Medicine
;
: 241-246, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-121800
ABSTRACT
Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of cholesterol esters in various organs. TD is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we present the first case report of a Korean patient with TD. A 45-year-old man had corneal opacity, intestinal mucosa abnormalities, and extremely low levels of HDL-C (1.8 mg/dL) and apo A-I (T (p.G1050X) nonsense mutation and c.3202C>T (p.R1068C) missense mutation. The c.3202C>T mutation was not found in 192 normal control alleles.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Apolipoproteínas
/
Enfermedad de Tangier
/
Exones
/
Colesterol
/
Ésteres del Colesterol
/
Apolipoproteína A-I
/
Colon
/
Codón sin Sentido
/
Transportadoras de Casetes de Unión a ATP
/
Opacidad de la Córnea
Límite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2010
Tipo del documento:
Artículo
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