Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

Human Molecular Genetics

Volumn 21, Issue 17, 2012, Pages 3835-3844

  Delmaghani, Sedigheh ^a,b   Aghaie, Asadollah ^a,b,c   Michalski, Nicolas ^a,b   Bonnet, Crystel ^a,b,c   Weil, Dominique ^a,b   Petit, Christine ^a,b,c,d  

^a Institut Pasteur   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSTITUT DE LA VISION   (France)

^d Paris Sciences et Lettres   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN; THROMBOSPONDIN TYPE LAMININ G DOMAIN AND EAR REPEATS PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 21Q; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INNER EAR DISEASE; IRAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SENSORY NERVE CELL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ANIMALS; AUDIOMETRY; BASE SEQUENCE; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 21; COCHLEA; DEAFNESS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETIC LOCI; HEK293 CELLS; HELA CELLS; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEINS; REPETITIVE SEQUENCES, AMINO ACID; RNA, MESSENGER; YOUNG ADULT;

EID: 84865063217     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds212     Document Type: Article

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