Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 189-194

  Seco, Celia Zazo ^a,b,c   Oonk, Anne M M ^a,c   Domínguez Ruiz, María ^d,e   Draaisma, Jos M T ^a   Gandía, Marta ^d,e   Oostrik, Jaap ^a,b,c   Neveling, Kornelia ^a   Kunst, Henricus P M ^a,c   Hoefsloot, Lies H ^a   Del Castillo, Ignacio ^d   Pennings, Ronald J E ^a,c   Kremer, Hannie ^a,b,c   Admiraal, Ronald J C ^a,c   Schraders, Margit ^a,b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; MYOSIN VI; ACTIN BINDING PROTEIN; CHLORIDE CHANNEL; CLIC5 PROTEIN, HUMAN; STOP CODON;

AREFLEXIA; ARTICLE; CHILD; CHROMOSOME 6Q; CLIC5 GENE; GENE; GENE EXPRESSION PROFILING; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MILD RENAL IMPAIRMENT; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VESTIBULAR DISORDER; ADOLESCENT; CELL LINE; DEAFNESS; FEMALE; GENETICS; HOMOZYGOTE; INFANT; MALE; METABOLISM; PEDIGREE; STOP CODON; VESTIBULAR DISEASES;

ADOLESCENT; CELL LINE; CHILD; CHLORIDE CHANNELS; CODON, NONSENSE; DEAFNESS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MICROFILAMENT PROTEINS; NONSENSE MEDIATED MRNA DECAY; PEDIGREE; RNA, MESSENGER; VESTIBULAR DISEASES;

EID: 84921370398     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.83     Document Type: Article

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