نتائج البحث

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.

• Authors : Xueyuan Jia¹ ; Feng Zhang² ; Jing Bai¹

• Source: BMC Medical Genetics. 2013, Vol. 14 Issue 1, p2-17. 16p.

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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.

• Authors : Wu, Xing^1,2 ; Chen, Lanlan² ; Zhang, Yixin²

• Source: BMC Medical Genetics. 11/26/2018, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p.

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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

• Authors : Xing Wu; Lanlan Chen; Yixin Zhang

Subjects: VHL; Missense mutation; W117R

• Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)

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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

• Authors : Lanlan Chen; Yixin Zhang; Hainan Xie

Subjects: Male; 0301 basic medicine; von Hippel-Lindau Disease

• Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)BMC Medical Genetics

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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.

• Authors : Jia X; Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China. .; Zhang F

Subjects: Asian People/Asian People/Asian People/*genetics ; Cataract/Cataract/Cataract/*genetics ; gamma-Crystallins/gamma-Crystallins/gamma-Crystallins/*geneticsCataract, Autosomal Dominant

• Source: BMC medical genetics [BMC Med Genet] 2013 Oct 08; Vol. 14, pp. 107. Date of Electronic Publication: 2013 Oct 08.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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