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Literature DB >> 9635628

Rapid diagnostic test for detection of Cys282Tyr mutation in hereditary hemochromatosis.

M T Andre, S Jacquemont, S Renault, F Airaud, O Herbert, J P Moisan, B Benichou, O Raguenes.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1998 PMID： 9635628 DOI： 10.1023/a:1018884530378

Source DB: PubMed Journal: Dig Dis Sci ISSN： 0163-2116 Impact factor: 3.199

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12 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. 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

Rapid diagnostic test for detection of Cys282Tyr mutation in hereditary hemochromatosis.

1. Global prevalence of putative haemochromatosis mutations.

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

3. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

4. Haemochromatosis and HLA-H.

5. Prevalence of haemochromatosis amongst asymptomatic Australians.

6. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).

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

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

9. The gene encoding human annexin V has a TATA-less promoter with a high G+C content.

10. Long-term survival in patients with hereditary hemochromatosis.