A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband-Reference-Cited by-同舟云学术

A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband

Published:1994 Issue:4 Volume:3 Page:397-398
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Jain Pawan K.,Dozy Andrée M.,Verma I. C.,Chehab Farid F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks

2. Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily

3. (1988) “Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophorcsis in genomic analysis: a prenatal diagnosis.” In (ed): Genomic Analysis: A Practical Approach. IRL Press, Oxford, pp 95-139.

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1. Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide ‘AGCT’ at the junction IVS-II/exon 3;Annals of Hematology;2012-07-24

2. Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population;Hematology Reports;2012-05-10

3. Geographic and Ethnic Distribution of β-Thalassemia Mutations in Uttar Pradesh, India;Hemoglobin;2000-01

4. Prenatal diagnosis of β-thalassaemia: experience in a developing country;Prenatal Diagnosis;1998-01

5. Regional distribution of β-thalassemia mutations in India;Human Genetics;1997-06-19