Fabry dia due to D313Y and novel GLA
mutations
期刊名称： Bmj Open
关于理想的句子>篮球运球教学>打拼音作者： Konstantinos Koulousios,Konstantinos Stylianou,Panagiotis
Pateinakis,Maria Zamanakou,Anastasios E Germenis
年份： 2017年
期号： 第10期
关键词： fabry dia;D313y gla mutation;novel gla mutations;kidney
biopsy;misdiagnosis
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圣诞前夜摘要：Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry dia (FD) and 郁金功效
自食其力的意思
provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been prented in the literature. Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cas and 18 members of their families were included in this polycentric cohort study. Genotyping and measurement of lyso-Gb3was performed in all individuals. The α-Gal A activity was measured in all men as well as plasma and urine Gb3concentration in lected cas. Optical and electron microscopy was performed in kidney biopsies of lected patients. All the above were evaluated in parallel with the clinical data of the patients. Fourteen new cas of FD were recognid, four of which were
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