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Molecular genetic studies showed that both siblings, in addition to being heterozygous for the 1.02\u2010kb CLN3 deletion, a common mutation in JNCL, also had a G\u2010to\u2010A missense mutation at nucleotide 1,020 of the CLN3 cDNA sequence on the non\u20101.02\u2010kb deletion chromosomes. This point mutation resulted in a substitution of glutamic acid by lysine at position 295 of the CLN3 protien. Thus, a single point mutation at residue 295 of the CLN3 protien in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL.<\/jats:p>","DOI":"10.1002\/ana.410430118","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:10:19Z","timestamp":1104592219000},"page":"106-110","source":"Crossref","is-referenced-by-count":45,"title":["Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis"],"prefix":"10.1002","volume":"43","author":[{"given":"K. 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