A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

New England Journal of Medicine

Volumn 348, Issue 17, 2003, Pages 1664-1670

  Ben Yosef, Tamar ^a   Ness, Seth L ^b   Madeo, Anne C ^a   Bar Lev, Adi ^b   Wolfman, Jessica H ^a   Ahmed, Zubair M ^a   Desnick, Robert J ^b   Willner, Judith P ^b   Avraham, Karen B ^c   Ostrer, Harry ^d   Oddoux, Carole ^d   Griffith, Andrew J ^a   Friedman, Thomas B ^a,e  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e NIDCD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AREFLEXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; NUCLEOTIDE SEQUENCE; PCDH15 GENE; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; TYPE 1 USHER SYNDROME; USHER SYNDROME; VESTIBULAR AREFLEXIA; VISUAL IMPAIRMENT;

BASE SEQUENCE; CADHERINS; CHROMOSOMES, HUMAN, PAIR 10; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; JEWS; MALE; MUTATION; PEDIGREE; PROTEIN PRECURSORS; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0242711914     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa021502     Document Type: Article

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