Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
About this item
Full title
Author / Creator
Publisher
Berlin: Springer
Journal title
Language
English
Formats
Publication information
Publisher
Berlin: Springer
Subjects
More information
Scope and Contents
Contents
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common inherited disorder of steroid metabolism, with an incidence of 1/10,000 in the general Caucasian population. Although most patients carry a deletion of the CYP21 gene or any of nine pseudogene-derived point mutations, the number of reported rare mutations continues t...
Alternative Titles
Full title
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_572855
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_572855
Other Identifiers
ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-006-0121-x
