Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9

Otology and Neurotology

Volumn 24, Issue 2, 2003, Pages 205-209

  Mhatre, Anand N ^a   Kim, Yuil ^a   Brodie, Hillary A ^b   Lalwani, Anil K ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Laboratory of Molecular Otology   (United States)

Author keywords

Denaturing high performance liquid chromatography; Hearing impairment; Macrothrombocytopenia; MYH9

Indexed keywords

ASPARAGINE; ASPARTIC ACID;

AMINO ACID SUBSTITUTION; ARTICLE; DISEASE ACTIVITY; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MYH9 GENE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THROMBOCYTOPENIA;

AMINO ACID SUBSTITUTION; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; HEARING LOSS, SENSORINEURAL; HUMANS; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; THROMBOCYTOPENIA;

EID: 0037341336     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200303000-00013     Document Type: Article

References (10)

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