Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

Teh, E M; Chisholm, J W; Dolphin, P J; Pouliquen, Y; Savoldelli, M; de Gennes, J L; Benlian, P

Teh, E M; Chisholm, J W; Dolphin, P J; Pouliquen, Y; Savoldelli, M; de Gennes, J L; Benlian, P.

Affiliation

Teh EM; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, Canada.

Atherosclerosis ; 146(1): 141-51, 1999 Sep.

Article in En | MEDLINE | ID: mdl-10487497

Subject(s)

Corneal Opacity/genetics; Exons/genetics; Frameshift Mutation; Lecithin Cholesterol Acyltransferase Deficiency/genetics; Phosphatidylcholine-Sterol O-Acyltransferase/genetics; Adolescent; Apolipoproteins/analysis; Apolipoproteins/blood; Base Sequence; Codon; Cornea/chemistry; Cornea/ultrastructure; Corneal Opacity/blood; Corneal Opacity/diagnosis; DNA Mutational Analysis; Electrophoresis, Agar Gel; Female; Gene Deletion; Humans; Lecithin Cholesterol Acyltransferase Deficiency/diagnosis; Molecular Sequence Data; Phenotype; Phosphatidylcholines/genetics; Polymerase Chain Reaction

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Collection: 01-internacional Database: MEDLINE Main subject: Exons / Frameshift Mutation / Corneal Opacity / Phosphatidylcholine-Sterol O-Acyltransferase / Lecithin Cholesterol Acyltransferase Deficiency Type of study: Diagnostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Atherosclerosis Year: 1999 Document type: Article Affiliation country: Canada Country of publication: Ireland

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