"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Amir JahicSven GüntherNicole MuscholBarbro Fossøy StadheimØivind BraatenHanne Kjensli HyldebrandtGé-Ann KuiperKaren TyleeFrits A WijburgChristian Beetz

Published in: Molecular genetics & genomic medicine (2019)

Together with the CNVs we previously identified, a total of four pathogenic IDUA CNVs have now been reported.

Keyphrases

copy number
mitochondrial dna
genome wide
high throughput
bioinformatics analysis
gene expression