ENAM mutations and digenic inheritance
ENAM mutations and digenic inheritance
About this item
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Author / Creator
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Scope and Contents
Contents
Background
ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective.
Methods
Whole exome sequences of recruited AI probands were initially screened for mutations in known AI candidate genes. Sanger se...
Alternative Titles
Full title
ENAM mutations and digenic inheritance
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7b61b9235588451f9c86615f3eaad46c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7b61b9235588451f9c86615f3eaad46c
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.928
