A novel β-thalassemia mutation in an Asian Indian

Hemoglobin

Volumn 26, Issue 1, 2002, Pages 49-57

  Shaji, Ramachandran V ^a   Gerard, Nathalie ^b   Krishnamoorthy, Rajagopal ^b   Srivastava, Alok ^a   Chandy, Mammen ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN; NUCLEIC ACID BASE;

ARTICLE; BASE MISPAIRING; BETA THALASSEMIA; CASE REPORT; DNA REPLICATION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; HUMAN TISSUE; INDIA; MALE; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON;

ADULT; BETA-THALASSEMIA; CHILD; CODON, NONSENSE; DNA REPLICATION; EXONS; FEMALE; FRAMESHIFT MUTATION; GLOBINS; HUMANS; INDIA; MALE; MODELS, GENETIC; PEDIGREE; SEQUENCE DELETION;

EID: 0036212009     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120002940     Document Type: Article

References (17)

1. The challenge of genetic disorders in India
2. Distribution and control of some genetic disorders
3. The β and δ-thalassemia repository (Ninth edition; part II)
4. The spectrum of β-thalassemia mutations on the Indian subcontinent: The basis for prenatal diagnosis
5. Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks
6. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms
7. + thalassemia alleles
8. Rapid analysis of -(3.7) thalassaemia and ααα anti 3.7 triplication by enzymatic amplification analysis
9. Detection of a novel DNA polymorphism in the β-globin gene cluster
10. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
11. Characterization of a spontaneous mutation in β-thalassemia associated with advanced paternal age
12. The great heterogeneity of thalassemia molecular defects in Sicily
13. 0-thalassemia in a Turkish patient
14. β-Thalassemia gene analysis in a Turkish family reveals a 7 bp deletion in the coding region
15. A novel deletion in a Turkish β-thalassemia patient detected by DGGE and direct sequencing: FSC 22-24 (- 7 bp)
16. Hb Neuilly-Sur-Marne, a new human hemoglobin variant with Ser-Asp-Leu inserted between α86(F7) Leu and α87(F8) His: Characterization by high-energy collision-induced dissociation liquid secondary ion mass spectrometry and low energy collision-induced dissociation tandem mass spectrometry in an ion trap fitted with a nanospray ionization source
17. Severity differences in β-thalassaemia/Haemoglobin E syndromes: Implication of genetic factors