Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli- Arab inbred family segregati...
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli- Arab inbred family segregating Hirschsprung disease
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English
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Hirschsprung disease (HSCR) is characterised by intestinal obstruction resulting from an absence of ganglion cells in the intestinal tract. The mutations in the major gene, RET, associated with isolated HSCR, are dominant loss-of-function mutations with incomplete penetrance and variable expressivity. We have ascertained a large inbred Israeli-Arab...
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Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli- Arab inbred family segregating Hirschsprung disease
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TN_cdi_proquest_miscellaneous_19552597
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_19552597
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201733;
