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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Gao H, et al. Among authors: lerner tj. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21. Am J Hum Genet. 2002. PMID: 11791207 Free PMC article.
Microsatellite repeat polymorphism at the D16S366 locus.
Schultz EA, Callen DF, Doggett NA, Haines JL, Lerner TJ. Schultz EA, et al. Among authors: lerner tj. Hum Mol Genet. 1994 Sep;3(9):1713. doi: 10.1093/hmg/3.9.1713-a. Hum Mol Genet. 1994. PMID: 7833946 No abstract available.
Peripherin gene is linked to keratin 18 gene on human chromosome 12.
Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Blumenfeld A, et al. Among authors: lerner t. Somat Cell Mol Genet. 1995 Jan;21(1):83-8. doi: 10.1007/BF02255825. Somat Cell Mol Genet. 1995. PMID: 7541564
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: lerner tj. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
147 results