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Page 1
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Emmert S, et al. Among authors: shahlavi t. J Invest Dermatol. 2002 Jun;118(6):972-82. doi: 10.1046/j.1523-1747.2002.01782.x. J Invest Dermatol. 2002. PMID: 12060391 Free article.
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH. Khan SG, et al. Among authors: shahlavi t. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469. Nucleic Acids Res. 2002. PMID: 12177305 Free PMC article.
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH. Khan SG, et al. Among authors: shahlavi t. Hum Mol Genet. 2004 Feb 1;13(3):343-52. doi: 10.1093/hmg/ddh026. Epub 2003 Dec 8. Hum Mol Genet. 2004. PMID: 14662655
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH. Khan SG, et al. Among authors: shahlavi t. DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14. DNA Repair (Amst). 2009. PMID: 18955168 Free PMC article.