Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes

Human Genetics

Volumn 132, Issue 12, 2013, Pages 1339-1350

  Brophy, Patrick D ^a   Alasti, Fatemeh ^a   Darbro, Benjamin W ^a   Clarke, Jason ^a   Nishimura, Carla ^a   Cobb, Bryan ^b   Smith, Richard J ^a   Manak, J Robert ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRANCHIOOTORENAL SYNDROME; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EXON; EYA1 GENE; FGF3 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC RECOMBINATION; GENOME ANALYSIS; HETEROZYGOTE; HOXA GENE; HUMAN; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SHARPIN GENE;

BRANCHIO-OTO-RENAL SYNDROME; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FIBROBLAST GROWTH FACTOR 3; GENE REGULATORY NETWORKS; GENETIC ASSOCIATION STUDIES; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MULTIGENE FAMILY; NUCLEAR PROTEINS; PROTEIN TYROSINE PHOSPHATASES; RECOMBINATION, GENETIC; UBIQUITINS;

EID: 84889249714     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1338-8     Document Type: Article

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