T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease

Clinica Chimica Acta

Volumn 343, Issue 1-2, 2004, Pages 201-208

  Miida, Takashi ^a   Zhang, Bo ^b   Obayashi, Konen ^a   Seino, Utako ^a   Zhu, Ying ^a   Ito, Takako ^a   Nakamura, Yuichi ^a   Okada, Masahiko ^a   Saku, Keijiro ^b  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b FUKUOKA UNIVERSITY   (Japan)

Author keywords

CE; Cholesteryl ester; Conversion; Familial LCAT deficiency; FC; FLD; Free cholesterol; HDL; High density lipoprotein; LCAT; LDL; Lecithin cholesterol acyltransferase; Low density lipoprotein; Mutation; Pre HDL; Two dimensional gel electrophoresis

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; METHIONINE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; CODON; CORNEA OPACITY; ENZYME ACTIVITY; EVALUATION; EYE DISEASE; FAMILY HISTORY; FISH EYE DISEASE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOLIPOPROTEINEMIA; INCUBATION TIME; LABORATORY TEST; MALE; PATIENT REFERRAL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TWO DIMENSIONAL GEL ELECTROPHORESIS; UNIVERSITY HOSPITAL;

ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; EYE DISEASES; FEMALE; HUMANS; LIPOPROTEINS; LIPOPROTEINS, HDL; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; THREONINE; TRANSFECTION;

EID: 2042472837     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.01.014     Document Type: Article

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