Abstract:
:Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p.Cys326 in SLC40A1 gene function.
journal_name
Intern Med Jjournal_title
Internal medicine journalauthors
Chen SR,Yang LQ,Chong YT,Jie YS,Wu YK,Yang J,Lin GL,Li XHdoi
10.1111/imj.12764subject
Has Abstractpub_date
2015-06-01 00:00:00pages
672-6issue
6eissn
1444-0903issn
1445-5994journal_volume
45pub_type
杂志文章abstract:BACKGROUND:Congestive heart failure (CHF) is a frequent complication of most diseases of the heart. CHF is associated with impairment in several aspects of the quality of life of patients, including mood and cognitive performance. Early reports indicated that patients with CHF display deficits in memory and other intel...
journal_title:Internal medicine journal
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