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Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH. Odermatt A, et al. Among authors: breuning mh. Genomics. 1997 Nov 1;45(3):541-53. doi: 10.1006/geno.1997.4967. Genomics. 1997. PMID: 9367679 Free article.
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
Mitchison HM, Munroe PB, O'Rawe AM, Taschner PE, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE. Mitchison HM, et al. Among authors: breuning mh. Genomics. 1997 Mar 1;40(2):346-50. doi: 10.1006/geno.1996.4576. Genomics. 1997. PMID: 9119403
Cross-species homology of the CLN3 gene.
Taschner PE, de Vos N, Breuning MH. Taschner PE, et al. Among authors: breuning mh. Neuropediatrics. 1997 Feb;28(1):18-20. doi: 10.1055/s-2007-973658. Neuropediatrics. 1997. PMID: 9151313
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: breuning mh. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE. Mole SE, et al. Among authors: breuning mh. Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. doi: 10.1053/ejpn.2000.0427. Eur J Paediatr Neurol. 2001. PMID: 11589012 Review.
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: breuning mh. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.
309 results