Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family

Gene

Volumn 511, Issue 2, 2012, Pages 280-284

  Lezirovitz, Karina ^a   Batissoco, Ana C ^a   Lima, Fernanda T ^b   Auricchio, Maria T B M ^a   Nonose, Renata W ^a   dos Santos, Simone R ^a   Guilherme, Luiza ^a   Oiticica, Jeanne ^a   Mingroni Netto, Regina C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Foundation for Study and Treatment of Craniofacial Deformities   (Brazil)

Author keywords

Hearing loss, sensorineural; Lymphoblastoid cell line; RNA splicing; TECTA protein, human

Indexed keywords

COMPLEMENTARY DNA; MEMBRANE PROTEIN; TECTORIN ALPHA PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL HEARING LOSS; BIOINFORMATICS; BRAZIL; DNA DETERMINATION; DONOR SITE; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INTRON; LINKAGE ANALYSIS; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL;

BASE SEQUENCE; BRAZIL; DEAFNESS; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GPI-LINKED PROTEINS; HUMANS; MALE; PEDIGREE; RNA, MESSENGER;

EID: 84868205513     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.023     Document Type: Article

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