A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
Angel Charities for Children--Wings for Genetic Research, Steele Memorial Children's Research Center, University of Arizona, Tucson 85724.
J W
JW
Pierpont
L D
LD
Doolan
K
K
Amann
G R
GR
Snead
R P
RP
Erickson
D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014849:Waardenburg Syndrome / Q000145:classification / Q000235:genetics*
C052155:endodeoxyribonuclease MnlI; D015252:Deoxyribonucleases, Type II Site-Specific