Novel β-thalassemia mutation in a β-thalassemia intermedia patient [Poly A (AATAAA → GATAAA)]

Hemoglobin

Volumn 25, Issue 1, 2001, Pages 103-105

  Waye, J S ^a   Eng, B ^a   Patterson, M ^a   Reis, M D ^a   Macdonald, D ^a   Chui, D H K ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A;

ACANTHOCYTOSIS; ADULT; ALLELE; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CANADA; CASE REPORT; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; MEAN CORPUSCULAR VOLUME; SPLENECTOMY; TARGET CELL;

5' UNTRANSLATED REGIONS; ADULT; AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; BLOOD TRANSFUSION; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; GLOBINS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; REGULATORY SEQUENCES, NUCLEIC ACID; SPLENECTOMY;

EID: 0035088914     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-100103075     Document Type: Article

References (6)

1. Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in the Indian and Cypriot populations of the UK
2. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
3. DNA sequencing with chain termination inhibitors
4. Detection of specific sequences among DNA fragments separated by gel electrophoresis
5. Point mutations in AAUAAA and the poly (A) addition Site: Effects on the accuracy and efficiency of cleavage and polyadenylation in vitro