Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

Migliosi, V

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay. [electronic resource] - Clinical genetics Nov 2004 - 478-80 p. digital

Publication Type: Letter

0009-9163

10.1111/j.1399-0004.2004.00318.x doi


Branchio-Oto-Renal Syndrome--genetics
Chromatography, High Pressure Liquid
DNA Mutational Analysis--methods
Female
Humans
Intracellular Signaling Peptides and Proteins
Male
Mutation--genetics
Nuclear Proteins
Nucleic Acid Denaturation
Protein Tyrosine Phosphatases
Trans-Activators--genetics