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A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.
Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS. Fyfe JC, et al. Among authors: henthorn ps. Mol Genet Metab. 2007 Apr;90(4):383-92. doi: 10.1016/j.ymgme.2006.12.003. Epub 2007 Jan 25. Mol Genet Metab. 2007. PMID: 17257876 Free PMC article.
The keeshond defect in cardiac conotruncal development is oligogenic.
Werner P, Raducha MG, Prociuk U, Ostrander EA, Spielman RS, Kirkness EF, Patterson DF, Henthorn PS. Werner P, et al. Among authors: henthorn ps. Hum Genet. 2005 Apr;116(5):368-77. doi: 10.1007/s00439-004-1242-3. Epub 2005 Feb 12. Hum Genet. 2005. PMID: 15711798
A cDNA encoding canine muscle-type phosphofructokinase.
Smith BF, Henthorn PS, Rajpurohit Y, Stedman H, Wolfe JH, Patterson DF, Giger U. Smith BF, et al. Among authors: henthorn ps. Gene. 1996 Feb 12;168(2):275-6. doi: 10.1016/0378-1119(95)00761-x. Gene. 1996. PMID: 8654960 Free article.
Molecular basis of canine muscle type phosphofructokinase deficiency.
Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. Smith BF, et al. Among authors: henthorn ps. J Biol Chem. 1996 Aug 16;271(33):20070-4. doi: 10.1074/jbc.271.33.20070. J Biol Chem. 1996. PMID: 8702726 Free article.
108 results