Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Nature Genetics

Volumn 34, Issue 4, 2003, Pages 421-428

  Mburu, Philomena ^a   Mustapha, Mirna ^b   Varela, Anabel ^a,f   Weil, Dominique ^b   El Amraoui, Aziz ^b   Holme, Ralph H ^c   Rump, Andreas ^d,e   Hardisty, Rachel E ^a   Blanchard, Stéphane ^b   Coimbra, Roney S ^b   Perfettini, Isabelle ^b   Parkinson, Nick ^a   Mallon, Ann Marie ^a   Glenister, Pete ^a   Rogers, Mike J ^c   Paige, Adam J ^a   Moir, Lee ^a   Clay, Jo ^a   Rosenthal, Andre ^d,e   Liu, Xue Zhong ^g   Blanco, Gonzalo ^a   Steel, Karen P ^c   Petit, Christine ^b   Brown, Steve D M ^a   more..

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b Institut Pasteur   (France)

^c UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^d MetaGen Pharmaceuticals GmbH   (Germany)

^e FRITZ LIPMANN INSTITUTE   (Germany)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PDZ PROTEIN; UNCLASSIFIED DRUG; WHIRLIN;

ACTIN POLYMERIZATION; ANIMAL CELL; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELLULAR DISTRIBUTION; COCHLEA; DFNB31 GENE; GENE; GENE MUTATION; HEARING IMPAIRMENT; MOUSE; MOUSE MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STEREOCILIUM; TRANSGENE;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CILIA; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; GENE EXPRESSION; GENES, RECESSIVE; HAIR CELLS, INNER; HAIR CELLS, OUTER; HUMANS; MEMBRANE PROTEINS; MICE; MICE, MUTANT STRAINS; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY;

ANIMALIA;

EID: 0043168114     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1208     Document Type: Article

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