A new codon 31 (-C) mutant resulting in beta zero-thalassemia.
A new beta zero-thalassemia mutation, a frameshift mutation with deletion of a single cytosine nucleotide in codon 31, is described. The propositus, which is compound heterozygous for this mutation and the 17 beta A-T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.
Lin
L I
LI
School of Medical Technology, College of Medicine, National Taiwan University, Taipei, Republic of China.
Lin
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KS
Lin
K H
KH
D001483:Base Sequence; D002872:Chromosome Deletion; D003062:Codon / Q000235:genetics*; D003596:Cytosine; D004247:DNA / Q000737:chemistry; D005914:Globins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D015345:Oligonucleotide Probes; D003596:Cytosine; D005914:Globins; D004247:DNA