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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: ellsworth re. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.
Ellsworth RE, Jamison DC, Touchman JW, Chissoe SL, Braden Maduro VV, Bouffard GG, Dietrich NL, Beckstrom-Sternberg SM, Iyer LM, Weintraub LA, Cotton M, Courtney L, Edwards J, Maupin R, Ozersky P, Rohlfing T, Wohldmann P, Miner T, Kemp K, Kramer J, Korf I, Pepin K, Antonacci-Fulton L, Fulton RS, Minx P, Hillier LW, Wilson RK, Waterston RH, Miller W, Green ED. Ellsworth RE, et al. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1172-7. doi: 10.1073/pnas.97.3.1172. Proc Natl Acad Sci U S A. 2000. PMID: 10655503 Free PMC article.
85 results