Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.
Dorval
I
I
Laboratoire de Biochimie Médicale B, Faculté de Médecine 2, Rennes, France.
Jezequel
P
P
Dubourg
C
C
Chauvel
B
B
Le Pogamp
P
P
Le Gall
J Y
JY
D000328:Adult; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics
D011392:Proline; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D007930:Leucine