Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome

Annals of Human Genetics

Volumn 70, Issue 1, 2006, Pages 140-144

  Estefania E ^a   Ramirez Camacho R ^b   Gomar, M ^a   Trinidad, A ^b   Arellano, B ^b   Garcia Berrocal J R ^b   Verdaguer, J M ^b   Vilches, Carlos ^a  

^a HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

BOR; Congenital anomalies Classification; EYA1 gene; Hearing loss; Oto facio cervical syndrome; Splicing

Indexed keywords

GENE PRODUCT; GENOMIC DNA; PROTEIN EYA1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUDIOMETRY; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CHROMOSOME 6; CONDUCTION DEAFNESS; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; GENE AMPLIFICATION; GENE DELETION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; MALE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; OTOFACIOCERVICAL DYSPLASIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; FACIES; HEARING LOSS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; POINT MUTATION; PROTEIN-TYROSINE-PHOSPHATASE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SHOULDER; SYNDROME;

EID: 33644821580     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1529-8817.2005.00204.x     Document Type: Article

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