Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Human Genetics

Volumn 109, Issue 5, 2001, Pages 535-541

  Liburd, N ^a   Ghosh, M ^a   Riazuddin, S ^a   Naz, S ^a   Khan, S ^a   Ahmed, Z ^a   Liang, Y ^a   Menon, P S N ^a   Smith, T ^a   Smith, A C M ^a   Chen, K S ^a   Lupski, J R ^a   Wilcox, E R ^a   Potocki, L ^a   Friedman, T B ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HUMAN CELL; INDIA; LYMPHOBLASTOID CELL; MISSENSE MUTATION; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PAKISTAN; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 17; CONSANGUINITY; DEAFNESS; DNA PRIMERS; FEMALE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LINKAGE (GENETICS); MALE; MICE; MUTATION, MISSENSE; MYOSINS; PEDIGREE; SYNDROME;

EID: 0035188190     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100604     Document Type: Article

References (33)

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