Identification of a compound beta-thalassemia homozygosity [codon 10 (GCC-->GCA) and codon 16 (-C)] in an Afghan family.
Krugluger
Walter
W
Department of Clinical Chemistry, Municipal Hospital Rudolfstiftung, Vienna, Austria.
Hopmeier
Pierre
P
D000328:Adult; D000346:Afghanistan; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods*; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D018389:Codon, Nonsense; D005914:Globins