Genomics

Dataset Information

0

High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain


ABSTRACT: We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis. Analysis of these data enabled the spectrum and relative distribution of the underlying genomic mutational signatures to be delineated. Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis.

ORGANISM(S): Homo sapiens

PROVIDER: GSE138542 | GEO | 2019/10/09

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2014-11-25 | E-GEOD-63594 | biostudies-arrayexpress
2014-11-25 | GSE63594 | GEO
2017-04-04 | GSE96049 | GEO
2014-02-26 | E-GEOD-55315 | biostudies-arrayexpress
2014-02-26 | GSE55315 | GEO
2015-04-22 | E-GEOD-68019 | biostudies-arrayexpress
2006-08-10 | GSE5373 | GEO
2015-04-22 | GSE68019 | GEO
2010-05-28 | GSE22016 | GEO
2019-01-17 | GSE125207 | GEO