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A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.
Munford V, Castro LP, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S, Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM. Munford V, et al. Among authors: quayle c. Br J Dermatol. 2017 May;176(5):1270-1278. doi: 10.1111/bjd.15084. Epub 2017 Mar 22. Br J Dermatol. 2017. PMID: 27664908
L1-associated genomic regions are deleted in somatic cells of the healthy human brain.
Erwin JA, Paquola AC, Singer T, Gallina I, Novotny M, Quayle C, Bedrosian TA, Alves FI, Butcher CR, Herdy JR, Sarkar A, Lasken RS, Muotri AR, Gage FH. Erwin JA, et al. Among authors: quayle c. Nat Neurosci. 2016 Dec;19(12):1583-1591. doi: 10.1038/nn.4388. Epub 2016 Sep 12. Nat Neurosci. 2016. PMID: 27618310 Free PMC article.
55 results