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The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family.
- Source :
-
Hemoglobin [Hemoglobin] 2006; Vol. 30 (2), pp. 171-3. - Publication Year :
- 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.
- Subjects :
- Abortion, Eugenic
Adult
Alleles
Asian People genetics
Child, Preschool
China
Codon genetics
Cordocentesis
Female
Fetal Diseases diagnosis
Heterozygote
Humans
Male
Phenotype
Pregnancy
Prenatal Diagnosis
Sequence Analysis, DNA
beta-Thalassemia diagnosis
beta-Thalassemia embryology
beta-Thalassemia ethnology
Codon, Nonsense
Fetal Diseases genetics
Globins genetics
beta-Thalassemia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0363-0269
- Volume :
- 30
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 16798641
- Full Text :
- https://doi.org/10.1080/03630260600642385