A homozygous missense variant in HSD17B4 identified in a...

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Chen, Kui, Yang, Ke, Luo, Su-Shan, Chen, Chen, Wang, Ying, Wang, Yi-Xuan, Li, Da-Ke, Yang, Yu-Jie, Tang, Yi-Lin, Liu, Feng-Tao, Wang, Jian, Wu, Jian-Jun, Sun, Yi-Min
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Volume:
18
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-017-0453-0
Date:
December, 2017
File:
PDF, 1.29 MB
english, 2017
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