Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0 carriers). However, a few carriers lack SMN1 in one of their chromosomes, but present two gene copies in the other. These “2/0 carriers” are undis...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Alías, Laura, Bernal, Sara, Calucho, Maite, Martínez, Elisabeth, March, Francesca, Gallano, Pia, Fuentes-Prior, Pablo, Abuli, Anna, Serra-Juhe, Clara, Tizzano, Eduardo F.
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2018
Teme:
Brief Communication
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6138687/
https://ncbi.nlm.nih.gov/pubmed/29904179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0193-4
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