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Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R. Huie ML, et al. Among authors: bonthron dt. Biochem Biophys Res Commun. 1998 Mar 27;244(3):921-7. doi: 10.1006/bbrc.1998.8255. Biochem Biophys Res Commun. 1998. PMID: 9535769 Free article.
Identification of SATB2 as the cleft palate gene on 2q32-q33.
FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT. FitzPatrick DR, et al. Among authors: bonthron dt. Hum Mol Genet. 2003 Oct 1;12(19):2491-501. doi: 10.1093/hmg/ddg248. Epub 2003 Jul 29. Hum Mol Genet. 2003. PMID: 12915443
Organization of the human glucokinase regulator gene GCKR.
Hayward BE, Dunlop N, Intody S, Leek JP, Markham AF, Warner JP, Bonthron DT. Hayward BE, et al. Among authors: bonthron dt. Genomics. 1998 Apr 1;49(1):137-42. doi: 10.1006/geno.1997.5195. Genomics. 1998. PMID: 9570959
A locus for isolated cleft palate, located on human chromosome 2q32.
Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR. Brewer CM, et al. Among authors: bonthron dt. Am J Hum Genet. 1999 Aug;65(2):387-96. doi: 10.1086/302498. Am J Hum Genet. 1999. PMID: 10417281 Free PMC article.
145 results