Two novel β-thalassemia alleles in the chinese: The IVS-II-2 (-T) and nucleotide +8 (C→T) β-globin gene mutations

Hemoglobin

Volumn 24, Issue 4, 2000, Pages 327-332

  Ma, S K ^a   Ha, S Y ^a   Chan, A Y Y ^a   Chan, G C F ^a   Lau, Y L ^a   Chan, L C ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN E; HEMOGLOBIN F;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHINESE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HEREDITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0033693154     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260008993141     Document Type: Article

References (7)

1. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening
2. Distribution of β-thalassemia mutations in South China and their association with haplotypes
3. Globin synthesis in thalassaemia: An in vitro study
4. A catalogue of splice junction sequences
5. The molecular genetics of human hemoglobin
6. Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
7. Moderate reduction of β-globin gene transcript by a novel mutation in the 5' untranslated region: A study of its interaction with other genotypes in two families