Query author contributions in Reactome

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Details on Person Bonafe, Luisa

Class:Id	Person:2426322
_displayName	Bonafe, Luisa
_timestamp	2012-07-31 13:31:39
created	[InstanceEdit:2426268] Jupe, S, 2012-07-31
firstname	Luisa
initial	L
surname	Bonafe
(author)	[LiteratureReference:2426335] Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution [LiteratureReference:3636786] Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis [LiteratureReference:3636829] Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features [LiteratureReference:3636943] A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype [LiteratureReference:4420321] Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders [LiteratureReference:9839277] Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
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No pathways have been reviewed or authored by Bonafe, Luisa (2426322)