(Q33679433)

28 July 2017

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis (English)

1 reference

28 July 2017

1 reference

D A Rhodes

1

1 reference

28 July 2017

R Raha-Chowdhury

series ordinal

2

1 reference

28 July 2017

T M Cox

series ordinal

3

1 reference

28 July 2017

J Trowsdale

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1997

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

34

1 reference

28 July 2017

9

1 reference

28 July 2017

761-764

1 reference

Mutation analysis in hereditary hemochromatosis.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Haemochromatosis and HLA-H.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Screening for hemochromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Expression of hemochromatosis in homozygous subjects. Implications for early diagnosis and prevention

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Intrafamilial variation in hereditary hemochromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

Prevalence of heterozygotes for hemochromatosis in the white population of the United States.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051063

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

30 October 2018

1 reference

12 December 2020

Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests

1 reference

12 December 2020

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1 reference

12 December 2020

Food iron absorption in idiopathic hemochromatosis

1 reference

12 December 2020

Prevalence of haemochromatosis amongst asymptomatic Australians

1 reference

12 December 2020

Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.9.761

1 reference

28 July 2017

1 reference

28 July 2017

1 reference