Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease

Human Molecular Genetics

Volumn 24, Issue 4, 2015, Pages 1119-1126

  Requena, Teresa ^a   Cabrera, Sonia ^a   Martín Sierra, Carmen ^a   Price, Steven D ^b   Lysakowski, Anna ^b   Lopez Escamez, José A ^a,c  

^a PFIZER INC   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^c HOSPITAL DE PONIENTE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; DTNA PROTEIN, HUMAN; DYSTROPHIN ASSOCIATED PROTEIN; FAM136A PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; NEUROPEPTIDE; PROTEIN BINDING;

ADULT; AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD BRAIN BARRIER; CASE REPORT; CELL INTERACTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DTNA GENE; EXOME; EXON; FAM136A GENE; FEMALE; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE IDENTIFICATION; GENE PRODUCT; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; LYMPHOBLASTOID CELL LINE; MEMBRANE PERMEABILITY; MENIERE DISEASE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON; WESTERN BLOTTING; ANIMAL; DNA MUTATIONAL ANALYSIS; DOMINANT GENE; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN TRANSPORT;

EPITONIUM; RATTUS;

ANIMALS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN-ASSOCIATED PROTEINS; EXOME; FEMALE; GENE EXPRESSION; GENES, DOMINANT; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MENIERE DISEASE; MITOCHONDRIAL PROTEINS; MUTATION; NEUROPEPTIDES; PEDIGREE; PROTEIN BINDING; PROTEIN TRANSPORT; RATS;

EID: 84922428462     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu524     Document Type: Article

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