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Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6 , mutated in variant late‐infantile form
Author(s) -
Kay C
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01761.x
Subject(s) - neuronal ceroid lipofuscinosis , batten disease , biology , genetics , gene , mutation
References 1. Jalanko A , Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009 : 1793 : 697 – 709.2. Abecasis GR , Cherny SS , Cookson WO , Cardon LR. Merlin‐rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002 : 30 : 97 – 101.3. Getty AL , Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci 2011 : 68 : 453 – 447. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 Arsov et al. (2011) American Journal of Human Genetics 88(5): 566–573.