NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis, Lynette A

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. [electronic resource] - American journal of human genetics Oct 2004 - 610-23 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0002-9297

10.1086/424698 doi


Amino Acid Sequence
Cell Cycle Proteins
Conserved Sequence--genetics
DNA Mutational Analysis
De Lange Syndrome--genetics
Humans
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Mutation--genetics
Phenotype
Polymorphism, Genetic
Proteins--genetics
Sequence Alignment