Query author contributions in Reactome

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Details on Person Chitayat, David

Class:Id	Person:2453884
_displayName	Chitayat, David
_timestamp	2012-08-17 13:27:24
created	[InstanceEdit:2453822] Jassal, Bijay, 2012-08-17
firstname	David
initial	D
surname	Chitayat
(author)	[LiteratureReference:2453832] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation [LiteratureReference:4420321] Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders [LiteratureReference:5615607] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome [LiteratureReference:5692447] Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux [LiteratureReference:9940755] The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition [LiteratureReference:9940798] Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
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No pathways have been reviewed or authored by Chitayat, David (2453884)