铁蛋白
医学
遗传学
突变
儿科
生物
内科学
基因
作者
A. Balas,M.J. Avilés,F. García‐Sánchez,José L. Vicário,Áurea Cervera
出处
期刊:Blood
[Elsevier BV]
日期:1999-06-01
卷期号:93 (11): 4020-4021
被引量:56
标识
DOI:10.1182/blood.v93.11.4020
摘要
To the Editor:
The hereditary hyperferritinemia cataract syndrome (HHCS) is characterized by an elevated serum ferritin level without iron overload, and autosomal dominant congenital bilateral cataract. In 1995, Girelli et al[1][1] identified a first mutation in the 5′ untranslated region of the
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