TY  - GEN
AU  - Cunliffe,H E
AU  - McNoe,L A
AU  - Ward,T A
AU  - Devriendt,K
AU  - Brunner,H G
AU  - Eccles,M R
TI  - The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
SN  - 0022-2593
PY  - 1999///0105
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Coloboma
KW  - DNA
KW  - blood
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Karyotyping
KW  - Male
KW  - Middle Aged
KW  - PAX2 Transcription Factor
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - methods
KW  - Polymorphism, Single-Stranded Conformational
KW  - Syndrome
KW  - Transcription Factors
KW  - Urogenital Abnormalities
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.35.10.806
ER  -