Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot mod...
Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot model based on hearing loss genes deletions
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
This study aimed to examine the implications of reporting heterozygous losses of recessive genes in Chromosomal Microarray Analysis (CMA), based on the incidence of microdeletions of three common hearing impairment genes in the local cohort and the prevalence of sequence variants in these genes in worldwide databases. Prevalence of heterozygous mic...
Alternative Titles
Full title
Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot model based on hearing loss genes deletions
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8384849
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8384849
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00856-3
