NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

Kaur, Maninder

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. [electronic resource] - American journal of medical genetics. Part C, Seminars in medical genetics 06 2016 - 163-70 p. digital

Publication Type: Journal Article

1552-4876

10.1002/ajmg.c.31495 doi


Cell Cycle Proteins
De Lange Syndrome--diagnosis
Female
Gene Expression Regulation
Humans
Male
Mutation
Phenotype
Polymerase Chain Reaction
Proteins--analysis
Severity of Illness Index