Hereditary hearing loss: A 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

Gene

Volumn 542, Issue 2, 2014, Pages 209-216

  Vozzi, D ^a   Morgan, A ^b   Vuckovic, D ^b   D'Eustacchio, A ^a   Abdulhadi, K ^c   Rubinato, E ^a   Badii, R ^c   Gasparini, P ^a,b   Girotto, G ^b  

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

^b UNIVERSITY OF TRIESTE   (Italy)

^c HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

Deafness; Hearing loss; Targeted sequencing

Indexed keywords

DEAFNESS; HEARING LOSS; TARGETED SEQUENCING;

ALLELES; AMINO ACID SEQUENCE; CARRIER PROTEINS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC TESTING; GPI-LINKED PROTEINS; HEARING LOSS; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOSINS; NEOPLASM PROTEINS; PEDIGREE; QATAR; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES; UNTRANSLATED REGIONS;

EID: 84898781283     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.03.033     Document Type: Article

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