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Mol Genet Metab. 1999 Apr;66(4):337-8.

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

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1
Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom.

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.

PMID:
10191125
DOI:
10.1006/mgme.1999.2804
[Indexed for MEDLINE]
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