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Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
BACKGROUND: In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Sequencing (NGS) techniques have considerably improved...
Uloženo v:
| Vydáno v: | BMC Med Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7733293/ https://ncbi.nlm.nih.gov/pubmed/33308164 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01167-y |
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