Identification of two new β-thalassemia splice mutations: IVS-I-1 (G → C) and IVS-I (- 2) (A → C)

Hemoglobin

Volumn 26, Issue 1, 2002, Pages 87-89

  Waye, John S ^a,b   Walker, Lynda ^a   Patterson, Margaret ^a   Chui, David H K ^a,b  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BETA THALASSEMIA; CANADA; CASE REPORT; FEMALE; GENE MUTATION; HEMOGLOBIN DETERMINATION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION;

ADULT; BETA-THALASSEMIA; CODON; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; ITALY; ONTARIO; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; RNA SPLICE SITES;

EID: 0036204187     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120002946     Document Type: Article

References (7)

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. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
4. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
5. Molecular characterization of seven β-thalassemia mutations in Asian Indians
6. Novel β-thalassemia mutation in patients of jewish descent: [β30(B12)Arg → Gly or IVS-I (-2) (A → G)]