title: Location of the mutation site in the first two reported cases of analbuminemia.
abstract: OBJECTIVE
  To find the mutation causing the first two reported cases of analbuminemia.
  
  
  METHODS
  DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced.
  
  
  RESULTS
  A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon.
  
  
  CONCLUSIONS
  The data suggest that analbuminemia is the result of widely scattered random mutations.
authors.affiliation: Research Institute, The Mary Imogene Bassett Hospital (affiliated with Columbia University), Cooperstown, NY 13326, USA.
authors.forename: Mary S
authors.initials: MS
authors.lastname: Ruhoff
authors.forename: Michael W
authors.initials: MW
authors.lastname: Greene
authors.forename: Theodore
authors.initials: T
authors.lastname: Peters
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001796:Blood Protein Disorders / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012709:Serum Albumin / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D055815:Young Adult
chemical_list: D012709:Serum Albumin