TY  - GEN
AU  - Gillis,Lynette A
AU  - McCallum,Jennifer
AU  - Kaur,Maninder
AU  - DeScipio,Cheryl
AU  - Yaeger,Dinah
AU  - Mariani,Allison
AU  - Kline,Antonie D
AU  - Li,Hui-hua
AU  - Devoto,Marcella
AU  - Jackson,Laird G
AU  - Krantz,Ian D
TI  - NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
SN  - 0002-9297
PY  - 2004///1216
KW  - Amino Acid Sequence
KW  - Cell Cycle Proteins
KW  - Conserved Sequence
KW  - genetics
KW  - DNA Mutational Analysis
KW  - De Lange Syndrome
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Proteins
KW  - Sequence Alignment
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/424698
ER  -