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题 名: | 一个抗维生素D佝偻病家系PHEX基因的新剪切突变 | ||||||||||
第一作者: | 李杰 | ||||||||||
期刊名称: | 中华医学遗传学杂志 | 出版年 | 2017 | 卷 | 34 | 期 | 02 | ||||
Title: | Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia | ||||||||||
First author:: | Li Jie | ||||||||||
Journal: | Chinese Journal of Medical Genetics | ||||||||||
Year | 2017 | Volume | 34 | Issue | 02 | ||||||
doi: | 10.3760/cma.j.issn.1003-9406.2017.02.014 | ||||||||||
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