Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease.

This study preliminarily suggests that SNP array is a sensitive and accurate technology for identifying PLP1 duplication and is feasible for reliable diagnosis, including for the prenatal diagnosis of PMD resulting from PLP1 duplication. PMID: 33429367 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33429367?dopt=Abstract

Source: Aging - January 11, 2021 Category: Biomedical Science Authors: Xue H, Yu A, Chen X, Lin N, Lin M, Huang H, Xu L Tags: Aging (Albany NY) Source Type: research