Cunliffe, H E

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. [electronic resource] - Journal of medical genetics Oct 1998 - 806-12 p. digital

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

0022-2593

10.1136/jmg.35.10.806 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Child, Preschool
Coloboma--genetics
DNA--blood
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Exons--genetics
Female
Heterozygote
Humans
Karyotyping
Male
Middle Aged
PAX2 Transcription Factor
Phenotype
Polymerase Chain Reaction--methods
Polymorphism, Single-Stranded Conformational
Syndrome
Transcription Factors--genetics
Urogenital Abnormalities--genetics
Vesico-Ureteral Reflux--genetics