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Prenatal diagnosis of Batten's disease.
Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564
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: munroe pb. Genomics. 1997 Mar 1;40(2):346-50. doi: 10.1006/geno.1996.4576. Genomics. 1997. PMID: 9119403
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. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: munroe pb. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237
315 results