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Titolo:
FAMILIAL HYPERCHOLESTEROLEMIA WITH CHOLESTERYL ESTER TRANSFER PROTEIN-DEFICIENCY
Autore:
KAMIGAKI M; TSUJI M; ISHII J; HATA A; CHIBA H; AKITA H; HIRAYAMA T; EMI M;
Indirizzi:
HOKKAIDO CENT HOSP SOCIAL HLTH INSURANCE,DEPT INTERNAL MED,1-8 NAKANOSHIMA SAPPORO HOKKAIDO 062092 JAPAN HOKKAIDO CENT HOSP SOCIAL HLTH INSURANCE,DEPT INTERNAL MED SAPPORO HOKKAIDO 062092 JAPAN
Titolo Testata:
Internal medicine
fascicolo: 6, volume: 37, anno: 1998,
pagine: 523 - 527
SICI:
0918-2918(1998)37:6<523:FHWCET>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
LOW-DENSITY-LIPOPROTEIN; COMMON MUTATIONS; RECEPTOR GENE;
Keywords:
LOW DENSITY LIPOPROTEIN RECEPTOR; GENE; MUTATION; CHOLESTERYL ESTER; CARRIER PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
M. Kamigaki et al., "FAMILIAL HYPERCHOLESTEROLEMIA WITH CHOLESTERYL ESTER TRANSFER PROTEIN-DEFICIENCY", Internal medicine, 37(6), 1998, pp. 523-527

Abstract

A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine apossible point mutation. The normal sequence was partially preserved,and the patient was genetically diagnosed as a heterozygote of FH, Inaddition, screening for two cholesteryl ester transfer protein (CETP)gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutationsfor atherosclerotic ailments was genetically ascertained.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/01/21 alle ore 18:00:10