Literature DB >> 9132598

Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda.

M Santos, H C Clevers, J J Marx.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9132598     DOI： 10.1056/NEJM199705013361817

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  9 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

Review 2.  Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Authors:  Vaithamanithi-Mudumbai Sadagopa Ramanujam; Karl Elmo Anderson
Journal:  Curr Protoc Hum Genet       Date:  2015-07-01

3.  Mineralocorticoid status and endocrine dysfunction in severe hemochromatosis.

Authors:  L M Hempenius; P S Van Dam; J J Marx; H P Koppeschaar
Journal:  J Endocrinol Invest       Date:  1999-05       Impact factor: 4.256

4.  Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.

Authors:  N G Mahon; A S Coonar; S Jeffery; F Coccolo; J Akiyu; B Zal; R Houlston; G E Levin; C Baboonian; W J McKenna
Journal:  Heart       Date:  2000-11       Impact factor: 5.994

5.  Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.

Authors:  Norman G Egger; Douglas E Goeger; Deborah A Payne; Emil P Miskovsky; Steven A Weinman; Karl E Anderson
Journal:  Dig Dis Sci       Date:  2002-02       Impact factor: 3.199

Review 6.  Hepatitis C, porphyria cutanea tarda and liver iron: an update.

Authors:  F Ryan Caballes; Hossein Sendi; Herbert L Bonkovsky
Journal:  Liver Int       Date:  2012-04-17       Impact factor: 5.828

7.  Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

Authors:  M Mendez; L Sorkin; M V Rossetti; K H Astrin; A M del C Batlle; V E Parera; G Aizencang; R J Desnick
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

8.  An unhappy triad: hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-a case report.

Authors:  Martina-T Mogl; Andreas Pascher; Sabine-J Presser; Michael Schwabe; Peter Neuhaus; Natascha-C Nuessler
Journal:  World J Gastroenterol       Date:  2007-04-07       Impact factor: 5.742

Review 9.  Digenic inheritance in medical genetics.

Authors:  Alejandro A Schäffer
Journal:  J Med Genet       Date:  2013-06-19       Impact factor: 6.318
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.