(Q28279799)

1

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Alison T Merryweather-Clarke

2

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Maritha J Kotze

3

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Schalk van der Merwe

4

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Louise Warnich

5

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Kathryn J H Robson

https://scigraph.springernature.com/pub.10.1007/s00439-004-1166-y

6

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language of work or name

English

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publication date

October 2004

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published in

Human Genetics

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volume

115

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issue

5

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page(s)

409-17

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exact match

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cites work

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

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12 December 2020

Uncommon mutations and polymorphisms in the hemochromatosis gene

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12 December 2020

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

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12 December 2020

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

12 December 2020

Splicing of messenger RNA precursors

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12 December 2020

New diallelic markers in the HLA region of chromosome 6

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12 December 2020

A new polymorphism in the human HFE gene.

1 reference

12 December 2020

Expression of the SLC11A1 (NRAMP1) 5'-(GT)n repeat: opposite effect in the presence of -237C-->T.

1 reference

12 December 2020

Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.

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12 December 2020

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

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12 December 2020

Sequence diversity in 36 candidate genes for cardiovascular disorders

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12 December 2020

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

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12 December 2020

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

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

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12 December 2020

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

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12 December 2020

Molecular evidence for the role of a ferric reductase in iron transport

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12 December 2020

Apolipoprotein E polymorphism in the early onset of coronary heart disease.

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12 December 2020

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

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12 December 2020

Hereditary hemochromatosis: presentation and diagnosis in the 1990s

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12 December 2020

Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene

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12 December 2020

A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload

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12 December 2020

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

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12 December 2020

An iron-regulated ferric reductase associated with the absorption of dietary iron

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12 December 2020

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

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12 December 2020

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

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12 December 2020

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

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12 December 2020

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

1 reference

12 December 2020

A catalogue of splice junction sequences

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12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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12 December 2020

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

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12 December 2020

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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12 December 2020

LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity

1 reference

12 December 2020

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

12 December 2020

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

12 December 2020

Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.

1 reference

12 December 2020

Multicentric origin of hemochromatosis gene (HFE) mutations

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12 December 2020

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

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12 December 2020

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family

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12 December 2020

Characterization of single-nucleotide polymorphisms in coding regions of human genes

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12 December 2020

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

1 reference

12 December 2020

The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans

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12 December 2020

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

1 reference

12 December 2020

Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families

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12 December 2020

Distinct functions of SR proteins in alternative pre-mRNA splicing.

1 reference

12 December 2020

Molecular diagnosis of hereditary haemochromatosis--identify an affected person and save a family

1 reference

12 December 2020

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)

1 reference

12 December 2020

Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region

1 reference

12 December 2020

Organization and expression of eucaryotic split genes coding for proteins

1 reference

12 December 2020

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

1 reference

12 December 2020