A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness

Laryngoscope

Volumn 117, Issue 5, 2007, Pages 821-824

  Primignani, Paola ^a   Trotta, Luca ^a   Castorina, Pierangela ^a   Lalatta, Faustina ^a   Cuda, Domenico ^b   Murri, Alessandra ^b   Ambrosetti, Umberto ^a   Cesarani, Antonio ^a   Curcio, Cristina ^a   Coviello, Domenico ^a   Travi, Maurizio ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b GUGLIELMO DA SALICETO HOSPITAL   (Italy)

Author keywords

Connexin 26; De novo mutation; Dominant deafness; P58A

Indexed keywords

CONNEXIN 26; CYSTEINE; GUANINE; PROLINE;

ANAMNESIS; ARTICLE; CASE REPORT; CODON; DNA SEQUENCE; FEMALE; GENE; GENE DELETION; GENETIC ANALYSIS; GJB2 GENE; HEARING AID; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MUTATION, MISSENSE; PEDIGREE;

EID: 34247891649     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MLG.0b013e31803330d9     Document Type: Article

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