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Literature DB >> 18055350

New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.

Carles de Diego, Sonsoles Opazo, Angel Sánchez-Castaño, Pedro Martínez-Castro.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2007 PMID： 18055350 DOI： 10.1532/IJH97.E0748

Source DB: PubMed Journal: Int J Hematol ISSN： 0925-5710 Impact factor: 2.490

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12 in total

1. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

Authors: P Aguilar-Martinez; M Bismuth; M C Picot; C Thelcide; G P Pageaux; F Blanc; P Blanc; J F Schved; D Larrey
Journal: Gut Date: 2001-06 Impact factor: 23.059

2. 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

3. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Authors: O T Njajou; N Vaessen; M Joosse; B Berghuis; J W van Dongen; M H Breuning; P J Snijders; W P Rutten; L A Sandkuijl; B A Oostra; C M van Duijn; P Heutink
Journal: Nat Genet Date: 2001-07 Impact factor: 38.330

4. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?

Authors: Carles de Diego; Sonsoles Opazo; Maria J Murga; Pedro Martínez-Castro
Journal: Eur J Haematol Date: 2006-10-17 Impact factor: 2.997

5. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Authors: Gérald Le Gac; Virginie Scotet; Chandran Ka; Isabelle Gourlaouen; Laurence Bryckaert; Sandrine Jacolot; Catherine Mura; Claude Férec
Journal: Hum Mol Genet Date: 2004-07-14 Impact factor: 6.150

6. Non-invasive assessment of hepatic iron stores by MRI.

Authors: Y Gandon; D Olivié; D Guyader; C Aubé; F Oberti; V Sebille; Y Deugnier
Journal: Lancet Date: 2004-01-31 Impact factor: 79.321

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

Authors: Alison T Merryweather-Clarke; Estelle Cadet; Adrian Bomford; Dominique Capron; Vip Viprakasit; Anne Miller; Paddy J McHugh; Roger W Chapman; Jennifer J Pointon; Victoria L C Wimhurst; Karen J Livesey; Voravarn Tanphaichitr; Jacques Rochette; Kathryn J H Robson
Journal: Hum Mol Genet Date: 2003-07-15 Impact factor: 6.150

Review 1. Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Authors: Xiaomu Kong; Lingding Xie; Haiqing Zhu; Lulu Song; Xiaoyan Xing; Wenying Yang; Xiaoping Chen
Journal: Orphanet J Rare Dis Date: 2019-07-08 Impact factor: 4.123

1 in total