WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

Gene

Volumn 538, Issue 2, 2014, Pages 288-291

  Goncalves A C ^a   Matos, T D ^a   Simoes Teixeira, H R ^a   Pimenta Machado, M ^b   Simao M ^b   Dias, O P ^b   Andrea, M ^b   Fialho, G ^a   Caria, H ^a,c  

^a UNIVERSITY OF LISBON   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c INSTITUTO POLITÉCNICO DE SETÚBAL   (Portugal)

Author keywords

LFSNHL; Novel mutation; Wolframin

Indexed keywords

LFSNHL; NOVEL MUTATION; WOLFRAMIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUDIOMETRY, PURE-TONE; BASE SEQUENCE; DNA; ENDOPLASMIC RETICULUM; EXONS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PORTUGAL;

EID: 84893956413     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.01.040     Document Type: Article

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