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Volumn 155, Issue 8, 2011, Pages 2021-2023
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A 1bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame
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Author keywords
[No Author keywords available]
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Indexed keywords
CATECHOL METHYLTRANSFERASE;
GENOMIC DNA;
LRTOMT1 PROTEIN, HUMAN;
PROTEIN;
ARTICLE;
CLINICAL ARTICLE;
CONGENITAL DEAFNESS;
CONSANGUINEOUS MARRIAGE;
EXON;
FEMALE;
FRAMESHIFT MUTATION;
GENE;
GENE DELETION;
GENE LOCUS;
HOMOZYGOTE;
HUMAN;
INTRON;
IRAN;
LRTOMT GENE;
MALE;
MICROSATELLITE MARKER;
PEDIGREE;
PRIORITY JOURNAL;
PURE TONE AUDIOMETRY;
CONSANGUINITY;
GENETIC ASSOCIATION;
GENETIC LINKAGE;
GENETICS;
HAPLOTYPE;
NUCLEOTIDE SEQUENCE;
PERCEPTION DEAFNESS;
CONSANGUINITY;
DNA MUTATIONAL ANALYSIS;
FEMALE;
FRAMESHIFT MUTATION;
GENETIC ASSOCIATION STUDIES;
GENETIC LINKAGE;
HAPLOTYPES;
HEARING LOSS, SENSORINEURAL;
HUMANS;
MALE;
PEDIGREE;
PROTEINS;
READING FRAMES;
SEQUENCE DELETION;
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EID: 79960558225
PISSN: 15524825
EISSN: 15524833
Source Type: Journal
DOI: 10.1002/ajmg.a.34096 Document Type: Article |
Times cited : (9)
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References (6)
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