Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein | Zendy

Shengjie Liu | Zendy; Jiangyi Wang | Zendy; Shuanghe Peng | Zendy; Teng Li | Zendy; Xianghui Ning | Zendy; Baoan Hong | Zendy; Jiayuan Liu | Zendy; Pengjie Wu | Zendy; Bowen Zhou | Zendy; Jingcheng Zhou | Zendy; Nienie Qi | Zendy; Xiang Peng | Zendy; Jiufeng Zhang | Zendy; Kaifang Ma | Zendy; Lin Cai | Zendy; Kan Gong | Zendy

Open Access

Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein

Author(s) -

Shengjie Liu,

Jiangyi Wang,

Shuanghe Peng,

Teng Li,

Xianghui Ning,

Baoan Hong,

Jiayuan Liu,

Pengjie Wu,

Bowen Zhou,

Jingcheng Zhou,

Nienie Qi,

Xiang Peng,

Jiufeng Zhang,

Kaifang Ma,

Lin Cai,

Kan Gong

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2017.261

Subject(s) - pheochromocytoma , missense mutation , hemangioblastoma , phenotype , von hippel–lindau disease , penetrance , cancer research , genotype , biology , mutation , medicine , disease , oncology , genetics , gene , endocrinology , pathology

Von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype-phenotype correlation based on alterations in VHL protein (pVHL).

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