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Publications
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Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y. Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism.. Neurology 50: 1340-5, 1998 (PubMed ID: 9595984) |
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ID: 200 | |
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Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44: 935-41, 1998 (PubMed ID: 9851438) |
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PARK2:
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(Ser167Asn)
(Gly179fs)
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ID: 198 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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