Query author contributions in Reactome

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Details on Person Fischer, J

Class:Id	Person:163494
_displayName	Fischer, J
_timestamp	2005-05-02 18:39:15
created	[InstanceEdit:163566] D'Eustachio, P, 2005-05-02 18:38:43
firstname	Judith
initial	J
surname	Fischer
(author)	[LiteratureReference:163607] Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome [LiteratureReference:216607] Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 [LiteratureReference:387013] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 [LiteratureReference:432877] Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome [LiteratureReference:880030] L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 [LiteratureReference:5627893] Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome [LiteratureReference:9843084] Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
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No pathways have been reviewed or authored by Fischer, J (163494)