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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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| Pubblicato in: | J Assist Reprod Genet |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer US
2019
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| Soggetti: | |
| Accesso online: | 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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