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Details on Person Superti-Furga, A

Class:Id	Person:3621721
_displayName	Superti-Furga, A
_timestamp	2013-05-24 11:02:24
created	[InstanceEdit:3621807] Jassal, B, 2013-05-24
firstname	A
initial	A
surname	Superti-Furga
(author)	[LiteratureReference:176653] Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse [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:3621693] Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene [LiteratureReference:3621703] A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations [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:5603266] Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases [LiteratureReference:9941460] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
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No pathways have been reviewed or authored by Superti-Furga, A (3621721)