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Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22.
Hum Mol Genet. 2009.
PMID: 18945719
Free PMC article.
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Hume AN, John A, Akawi NA, Al-Awadhi AM, Al-Suwaidi SS, Al-Gazali L, Ali BR.
Hume AN, et al. Among authors: al suwaidi ss.
Mol Cell Biochem. 2013 Jan;373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4.
Mol Cell Biochem. 2013.
PMID: 23124896
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Sequences within both the 5' UTR and Gag are required for optimal in vivo packaging and propagation of mouse mammary tumor virus (MMTV) genomic RNA.
Mustafa F, Al Amri D, Al Ali F, Al Sari N, Al Suwaidi S, Jayanth P, Philips PS, Rizvi TA.
Mustafa F, et al.
PLoS One. 2012;7(10):e47088. doi: 10.1371/journal.pone.0047088. Epub 2012 Oct 16.
PLoS One. 2012.
PMID: 23077548
Free PMC article.
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