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Literature DB >> 22942096

H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.

Barjinderjit Kaur Dhillon¹, Swami Prakash, G R Chandak, Y K Chawla, Reena Das.

Abstract

Entities: Gene

Mesh：

Substances：

Year: 2012 PMID： 22942096 DOI： 10.1007/s12041-012-0163-5

Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166

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18 in total

1. Global prevalence of putative haemochromatosis mutations.

Authors: A T Merryweather-Clarke; J J Pointon; J D Shearman; K J Robson
Journal: J Med Genet Date: 1997-04 Impact factor: 6.318

2. The origin and spread of the HFE-C282Y haemochromatosis mutation.

Authors: S Distante; K J H Robson; J Graham-Campbell; A Arnaiz-Villena; P Brissot; Mark Worwood
Journal: Hum Genet Date: 2004-09 Impact factor: 4.132

3. The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing.

Authors: Svetlana Vladimirovna Mikhailova; Vladimir Nikolaevich Babenko; Mikhail Ivanovich Voevoda; Aida Gerasimovna Romashchenko
Journal: Genet Test Mol Biomarkers Date: 2010-08

4. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors: J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal: Nat Genet Date: 1996-08 Impact factor: 38.330

5. Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.

Authors: Gurjeewan Garewal; Reena Das; Jasmina Ahluwalia; R K Marwaha
Journal: Eur J Haematol Date: 2005-04 Impact factor: 2.997

6. The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

Authors: L M Cullen; X Gao; S Easteal; E C Jazwinska
Journal: Am J Hum Genet Date: 1998-06 Impact factor: 11.025

7. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

Authors: M Roth; P Giraldo; G Hariti; E S Poloni; A Sanchez-Mazas; G F Stefano; J M Dugoujon; H Coppin
Journal: Immunogenetics Date: 1997 Impact factor: 2.846

3. Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.

Authors: Azza Aboul Enein; Nermine A El Dessouky; Khalda S Mohamed; Shahira K A Botros; Mona F Abd El Gawad; Mona Hamdy; Nehal Dyaa
Journal: Open Access Maced J Med Sci Date: 2016-06-01

3 in total

H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.

1. Global prevalence of putative haemochromatosis mutations.

2. The origin and spread of the HFE-C282Y haemochromatosis mutation.

3. The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing.

4. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

5. Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.

6. The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

7. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

8. New diallelic markers in the HLA region of chromosome 6.

Review 9. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

10. Uncommon mutations and polymorphisms in the hemochromatosis gene.

1. Intragenic haplotype analysis of common HFE mutations in the Portuguese population.

2. Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.

3. Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.