Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients

Atherosclerosis

Volumn 144, Issue 2, 1999, Pages 443-447

  Okubo, M ^a   Inoue, S ^a   Horinishi, A ^a   Ogihara, T ^a   Kaneko, K I ^a   Gotoda, T ^a   Yamada, N ^a   Murase, T ^a  

^a TORANOMON HOSPITAL   (Japan)

Author keywords

Chylomicronemia; Compound heterozygote; Founder effect; Haplotype; Hypertriglyceridemia; Lipoprotein lipase deficiency; Point mutation

Indexed keywords

ALLELE; CASE REPORT; CLINICAL FEATURE; FOUNDER EFFECT; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; INFANT; JAPAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0032976788     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00008-8     Document Type: Article

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