Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Girotto, Giorgia ^a   Abdulhadi, Khalid ^b   Buniello, Annalisa ^c   Vozzi, Diego ^d   Licastro, Danilo ^e   D'Eustacchio, Angela ^d   Vuckovic, Dragana ^a   Alkowari, Moza Khalifa ^b   Steel, Karen P ^c   Badii, Ramin ^b   Gasparini, Paolo ^a,d  

^a UNIVERSITY OF TRIESTE   (Italy)

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^e CBM Scrl   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; INITIATION FACTOR 1; TRANSCRIPTION FACTOR;

ANIMAL EXPERIMENT; ARTICLE; BDP1 GENE; CHROMOSOME; COCHLEA DUCT; CODON; CONTROLLED STUDY; DISEASE SEVERITY; ENDOTHELIUM CELL; ETHNIC GROUP; EXOME; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC LINKAGE; GJB2 GENE; GJB6 GENE; HEARING IMPAIRMENT; HEREDITARY DEAFNESS; IMMUNOHISTOCHEMISTRY; INNER EAR; LINKAGE ANALYSIS; MESENCHYME CELL; MOUSE; NONHUMAN; OTOSCOPY; PERCEPTION DEAFNESS; PROTEIN MOTIF; PURE TONE AUDIOMETRY; QATAR; QATARI; STRIA VASCULARIS;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 5; COCHLEAR DUCT; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENETIC LINKAGE; HEARING LOSS, FUNCTIONAL; HUMANS; LOD SCORE; MALE; MICE; MUTATION; PEDIGREE; TRANSCRIPTION FACTOR TFIIIB;

EID: 84891781477     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0080323     Document Type: Article

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