Novel mutation in OCRL leading to a severe form of Lowe syndrome

AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelate...

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Vydáno v:Int J Ophthalmol
Hlavní autoři: Zhou, Feng-Qi, Wang, Qi-Wei, Liu, Zhen-Zhen, Zhang, Xu-Lin, Wang, Dong-Ni, Dongye, Mei-Mei, Lin, Hao-Tian, Chen, Wei-Rong
Médium: Artigo
Jazyk:Inglês
Vydáno: International Journal of Ophthalmology Press 2019
Témata:
Basic Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629803/
https://ncbi.nlm.nih.gov/pubmed/31341792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2019.07.01
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