The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa

OBJECTIVE: To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP). METHODS: One pathogenic mutation (c.494G > A) of the retiniti...

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Bibliographic Details
Published in:J Assist Reprod Genet
Main Authors: Huang, Xinghua, Liu, Yun, Yu, Xiurong, Huang, Qiuxiang, Lin, Chunli, Zeng, Jian, Lan, Fenghua, Wang, Zhihong
Format: Artigo
Language:Inglês
Published: Springer US 2019
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6541692/
https://ncbi.nlm.nih.gov/pubmed/30887160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-019-01434-9
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