Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: A new member of the Usher syndrome protein interactome causing congenital hearing impairment

Human Molecular Genetics

Volumn 18, Issue 4, 2009, Pages 655-666

  Schneider, Eberhard ^a   Märker, Tina ^a   Daser, Angelika ^a   Frey Mahn, Gabriele ^a   Beyer, Vera ^a   Farcas, Ruxandra ^a   Schneider Rätzke, Brigitte ^a   Kohlschmidt, Nicolai ^a   Grossmann, Bärbel ^a   Bauss, Katharina ^a   Napiontek, Ulrike ^a   Keilmann, Annerose ^a   Bartsch, Oliver ^a   Zechner, Ulrich ^a   Wolfrum, Uwe ^a   Haaf, Thomas ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MEPROBAMATE; PDZ PROTEIN; PDZ PROTEIN 7; UNCLASSIFIED DRUG; WHIRLIN;

5' UNTRANSLATED REGION; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BACTERIAL ARTIFICIAL CHROMOSOME; CHILD; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 11; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA INTEGRATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; USHER SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 11; CONSANGUINITY; EAR, INNER; FEMALE; GENE REARRANGEMENT; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; TRANSLOCATION, GENETIC; USHER SYNDROMES;

BACTERIA (MICROORGANISMS); MURINAE;

EID: 58949083733     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn395     Document Type: Article

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