Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the
RNPC3
gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear r...
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Full title
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_0c62d11ee4ff4c95b77c0b3ae95baeb8
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0c62d11ee4ff4c95b77c0b3ae95baeb8
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.1002/emmm.201303573
