Clinical variant of Tangier disease in Japan: Mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis

Journal of Human Genetics

Volumn 47, Issue 7, 2002, Pages 366-369

  Ishii, Jun ^a   Nagano, Makoto ^b   Kujiraoka, Takeshi ^b   Ishihara, Mitsuaki ^b   Egashira, Tohru ^b   Takada, Daisuke ^c   Tsuji, Masahiro ^a   Hattori, Hiroaki ^b   Emi, Mitsuru ^c  

^a Hokkaido Hosp for Social Hlth Ins   (Japan)

^b 350 1101   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

ABCA1 gene; Corneal lipidosis; HDL deficiency; Hypoalphalipoproteinemia; Tangier disease

Indexed keywords

APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; ABC TRANSPORTER; ABC TRANSPORTER A1;

ABCA1 GENE; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORNEA LIPIDOSIS; CORONARY ARTERY DISEASE; ENZYME DEFICIENCY; GENE; GENE MUTATION; HOMOZYGOTE; HUMAN; JAPAN; LIPIDOSIS; LIPOPROTEIN DEFICIENCY; MALE; PHENOTYPE; TANGIER DISEASE; CORNEA DISEASE; GENETICS; MIDDLE AGED; MISSENSE MUTATION; PATHOPHYSIOLOGY;

ATP-BINDING CASSETTE TRANSPORTERS; CORNEAL DISEASES; HUMANS; JAPAN; LIPIDOSES; LIPOPROTEINS, HDL; MALE; MIDDLE AGED; MUTATION, MISSENSE; TANGIER DISEASE;

EID: 0036299871     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200051     Document Type: Article

References (11)

1. Familial high density lipoprotein deficiency: Tangier disease
2. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
3. Mutations in ABCA1 in Tangier disease and familial high-density lipoprotein deficiency
4. Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease
5. High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene
6. Familial HDL deficiency with defective cholesterol efflux is caused by mutations in the ABCA1 gene (CERP)
7. Expression and functional analyses of disease-associated novel mutations of ATP-binding cassette transporter-1 (ABCA1) in Japanese patients with high density lipoprotein deficiency
8. Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and ABC1-deficient mice
9. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
10. Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter
11. Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities