PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

Human Molecular Genetics

Volumn 12, Issue 24, 2003, Pages 3215-3223

  Ahmed, Zubair M ^a,c   Riazuddin, Saima ^a   Ahmad, Jamil ^c   Bernstein, Steve L ^d   Guo, Yan ^d   Sabar, Muhammad F ^c   Sieving, Paul ^e   Riazuddin, Sheikh ^c   Griffith, Andrew J ^a,b   Friedman, Thomas B ^a   Belyantseva, Inna A ^a   Wilcox, Edward R ^a,f  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

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

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^e NATIONAL EYE INSTITUTE   (United States)

^f NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; RNA;

ALLELE; ANIMAL TISSUE; ARTICLE; CELL FUNCTION; CONTROLLED STUDY; DISEASE SEVERITY; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HAIR CELL; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INNER EAR; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MORPHOGENESIS; NEUROEPITHELIUM; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHOTORECEPTOR; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RECESSIVE GENE; RETINITIS PIGMENTOSA; RNA SPLICING; STEREOCILIUM; USHER SYNDROME;

AGED; ALLELES; ANIMALS; BASE SEQUENCE; CADHERINS; COCHLEA; DEAFNESS; EPITHELIUM; GENES, RECESSIVE; HAPLORHINI; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICE; MICE, INBRED C57BL; MUTATION, MISSENSE; PEDIGREE; PROTEIN PRECURSORS; RETINA; RETINITIS PIGMENTOSA;

ANIMALIA;

EID: 0348013128     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg358     Document Type: Article

References (36)

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