Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering with Neurosteroid and Isoleu...
Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering with Neurosteroid and Isoleucine Metabolism
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United States: National Academy of Sciences
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Language
English
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United States: National Academy of Sciences
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Mutations in the HSD17B10 gene were identif ied in two previously described mentally retarded males. A point mutation c.776G>C was found from a survivor (SV), whereas a potent mutation, c.419C>T, was identified in another deceased case (SF) with undetectable hydroxysteroid (17β) dehydrogenase 10 (HSD10) activity. Protein levels of mutant HSD10(R130...
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Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering with Neurosteroid and Isoleucine Metabolism
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TN_cdi_proquest_miscellaneous_21168901
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_21168901
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0902377106
