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M editerranean fever ( MEFV ) gene profile and a novel missense mutation ( P313H ) in Iranian Azari‐Turkish patients
Annals of Human Genetics ( IF 1.0 ) Pub Date : 2019-09-11 , DOI: 10.1111/ahg.12347
Leila Rostamizadeh 1 , Leila Vahedi 2 , Seied Rafi Bahavarnia 3 , Shahriar Alipour 1 , Somayeh Abolhasani 4 , Alireza Khabazi 5 , Ebrahim Sakhinia 6
Affiliation  

Familial Mediterranean fever (FMF) is common in Azari‐Turkish people, one of the biggest ethnic groups in Iran. In this study, we sought to investigate the mutation spectrum of the MEFV gene and any genotype–phenotype correlations.

中文翻译:

伊朗阿扎里-土耳其患者的地中海热 (MEFV) 基因谱和新的错义突变 (P313H)

家族性地中海热 (FMF) 在阿扎里土耳其人中很常见,土耳其人是伊朗最大的族群之一。在这项研究中,我们试图调查 MEFV 基因的突变谱和任何基因型 - 表型相关性。
更新日期:2019-09-11
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