Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.
Migliosi
V
V
Flex
E
E
Guida
V
V
Martini
A
A
Giarbini
N
N
Markova
T
T
Torrente
I
I
Dallapiccola
B
B
D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D009691:Nucleic Acid Denaturation; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases