Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family autosomal dominant hearing impairment (DFNA11)

Human Genetics

Volumn 115, Issue 2, 2004, Pages 149-156

  Luijendijk, Mirjam W J ^a   van Wijk, Erwin ^a   Bischoff, Anne M L C ^a   Krieger, Elmar ^b   Huygen, Patrick L M ^a   Pennings, Ronald J E ^a   Brunner, Han G ^a   Cremers, Cor W R J ^a   Cremers, Frans P M ^a   Kremer, Hannie ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; AMINO ACID; ASPARAGINE; ISOLEUCINE; MYOSIN; MYOSIN HEAVY CHAIN; MYOSIN II; MYOSIN VIIA; NUCLEOTIDE; THYMINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUDIOGRAPHY; AUTOSOMAL DOMINANT DISORDER; CHEMICAL BINDING; CLASSIFICATION; CLINICAL ARTICLE; DICTYOSTELIUM DISCOIDEUM; DISEASE COURSE; EXON; FAMILIAL DISEASE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTRON; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MOLECULAR MODEL; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PREDICTION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SCORING SYSTEM; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; VESTIBULAR DISORDER;

DICTYOSTELIUM; DICTYOSTELIUM DISCOIDEUM;

EID: 3543020910     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1137-3     Document Type: Article

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