A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency

Clinical Chemistry and Laboratory Medicine

Volumn 45, Issue 4, 2007, Pages 483-486

  Bender, Bernhard U ^a   Quaschning, Thomas ^a   Neumann, Hartmut P H ^a   Schmidt, Dieter ^a   Kraemer Guth, Annette ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Chromosome 16; Corneal opacity; LCAT deficiency; LCAT gene mutation; Lecithin:cholesterol acyltransferase (LCAT); Renal failure

Indexed keywords

CHOLESTEROL ACYLTRANSFERASE; PHOSPHATIDYLCHOLINE;

ADULT; ANEMIA; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEMODIALYSIS; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; KIDNEY FAILURE; KIDNEY GRAFT; MOLECULAR GENETICS; PRIORITY JOURNAL; STOP CODON;

ELECTROPHORESIS, AGAR GEL; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; KIDNEY FAILURE; MIDDLE AGED; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE;

EID: 34247400768     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2007.102     Document Type: Article

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