(PDF) Identification of a Novel Mutation in the Β-Globin

Identification of a Novel Mutation in the Β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male With a Heterozygous Β-Thalassemia Phenotype

Hemoglobin - United States

doi 10.3109/03630269.2011.647186

Full Text

Open PDF

Abstract

Available in full text

Date

January 4, 2012

Authors

Publisher

Informa UK Limited

Related search

Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene

SAGE Open Medical Case Reports

2019

English

Β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients With Β Thalassemia Major

Thalassemia Reports

2018

English

Modifiers of Γ-Globin Gene Expression and Treatment of Β-Thalassemia

2015

English

A Preclinical Approach for Gene Therapy of Β-Thalassemia

Annals of the New York Academy of Sciences

Philosophy of Science

2010

English

Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human Β-Globin Gene Suggests Possible Cause of Β-Thalassemia

BioMed Research International

English

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

Molecular Medicine Reports

English

Β-Thalassemia Mutation at Codon 37 (TGG>>TGA) Detected in a Turkish Family

Turkish Journal of Haematology

Hematology

2013

English

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports

English

Two Novel C-Terminal Frameshift Mutations in the Β-Globin Gene Lead to Rapid mRNA Decay

BMC Medical Genetics

Genetics

2017

English

Amanote Research

Identification of a Novel Mutation in the Β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male With a Heterozygous Β-Thalassemia Phenotype

Hemoglobin - United States

doi 10.3109/03630269.2011.647186

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene

Β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients With Β Thalassemia Major

Modifiers of Γ-Globin Gene Expression and Treatment of Β-Thalassemia

A Preclinical Approach for Gene Therapy of Β-Thalassemia

Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human Β-Globin Gene Suggests Possible Cause of Β-Thalassemia

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

Β-Thalassemia Mutation at Codon 37 (TGG>>TGA) Detected in a Turkish Family

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Two Novel C-Terminal Frameshift Mutations in the Β-Globin Gene Lead to Rapid mRNA Decay