TY  - GEN
AU  - Sanyanusin,P
AU  - Schimmenti,L A
AU  - McNoe,L A
AU  - Ward,T A
AU  - Pierpont,M E
AU  - Sullivan,M J
AU  - Dobyns,W B
AU  - Eccles,M R
TI  - Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
SN  - 1061-4036
PY  - 1995///0803
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Base Sequence
KW  - Child
KW  - Chromosome Mapping
KW  - Coloboma
KW  - DNA
KW  - DNA-Binding Proteins
KW  - Exons
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Dominant
KW  - Humans
KW  - Kidney
KW  - abnormalities
KW  - Male
KW  - Mice
KW  - Mice, Mutant Strains
KW  - Molecular Sequence Data
KW  - Optic Nerve
KW  - PAX2 Transcription Factor
KW  - Pedigree
KW  - Transcription Factors
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng0495-358
ER  -