A novel missense mutation (Asn5→ IIe) in lecithin:cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency

International Journal of Clinical and Laboratory Research

Volumn 26, Issue 4, 1996, Pages 250-254

  Okubo, M ^a   Aoyama, Y ^a   Shio, H ^b   Albers, J J ^c   Murase, T ^a  

^a TORANOMON HOSPITAL   (Japan)

^b Tottori Prefectural Central Hospital   (Japan)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Diabetes mellitus; High density lipoprotein; Lecithin:cholesterol acyltransferase deficiency; Missense mutation

Indexed keywords

DNA; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; DNA SEQUENCE; GENETICS; HOMOZYGOTE; HUMAN; HYPOLIPOPROTEINEMIA; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; RESTRICTION MAPPING;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; HOMOZYGOTE; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; MIDDLE AGED; MUTATION; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA;

EID: 0030482071     PISSN: 09405437     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02602958     Document Type: Article

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