Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

Molecular Vision

Volumn 13, Issue , 2007, Pages 102-107

  Le Guédard, Sandie ^a   Faugère, Valérie ^a   Malcolm, Sue ^b   Claustres, Mireille ^a   Roux, Anne Françoise ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTOCADHERIN 15; UNCLASSIFIED DRUG;

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; HAPLOTYPE; HUMAN; INTRON; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; USHER SYNDROME; USHER SYNDROME 1F;

CADHERINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; GENE DELETION; GENE REARRANGEMENT; GENOME, HUMAN; HAPLOTYPES; HETEROZYGOTE; HUMANS; POLYMERASE CHAIN REACTION; USHER SYNDROMES;

EID: 33846699514     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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