A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef
Tamar
T
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md 20850, USA.
Ness
Seth L
SL
Madeo
Anne C
AC
Bar-Lev
Adi
A
Wolfman
Jessica H
JH
Ahmed
Zubair M
ZM
Desnick
Robert J
RJ
Willner
Judith P
JP
Avraham
Karen B
KB
Ostrer
Harry
H
Oddoux
Carole
C
Griffith
Andrew J
AJ
Friedman
Thomas B
TB
D001483:Base Sequence; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005808:Genes, Recessive; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011498:Protein Precursors / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
C498835:CDHR15, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; D011498:Protein Precursors