title: A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
abstract: To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7.
authors: Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom.
authors: R B
authors: RB
authors: Wheeler
authors: J D
authors: JD
authors: Sharp
authors: W A
authors: WA
authors: Mitchell
authors: S L
authors: SL
authors: Bate
authors: R E
authors: RE
authors: Williams
authors: B D
authors: BD
authors: Lake
authors: R M
authors: RM
authors: Gardiner
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree