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Updated: Aug 7, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family
Dongzhi Li1, Can Liao, Jian Li
1Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangdong, People's Republic of China. dongzhi3@yahoo.com.cn
Hemoglobin
|June 27, 2006
Abstract:
We have found an example of the nonsense beta-thalassemia (thal) mutation at codon 37 (TGG-->TAG; Trp-->Stop) in a Chinese family. The fetus, who inherited both parents' beta-thalassemic alleles, was a compound heterozygote for the codons 41/42 (-TCTT) and codon 37 (TGG-->TAG) mutations, and presented with the phenotype of severe beta-thal.
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