[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].

Izabel Maryalexandra Rios-Flores Lucina Bobadilla-Morales Christian Peña-Padilla Alfredo Corona-Rivera Elizabeth Acosta-Fernández Jennifer Santana-Hernández Sinhue Alejandro Brukman-Jiménez Jorge Román Corona Rivera

Published in: Revista medica del Instituto Mexicano del Seguro Social (2021)

The use of the MS-MLPA assay for the 15q11-q13 region was very useful for the diagnosis and identification of the genomic and epigenetic defects involved in either PWS and AS.

Keyphrases

mass spectrometry
multiple sclerosis
high throughput
ms ms
growth hormone
dna methylation
gene expression
copy number
single cell
genome wide