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Paper Details

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Am J Hum Genet
85
2011
B3GAT3, BAV, GlcAT-I, Larsen-like syndrome, Patient, Patients, aortic root dilatation, bicuspid aortic valve, c., c.830G>A, cardiac and joint defects, chromosome 11, congenital heart defects, dermatan, glucuronosyltransferase-I, glucuronyltransferase, heart defects, heart malformations, joint dislocations, mitral valve prolapse, p.Arg277Gln, patients, recessive joint dislocations, sulfate, ventricular septal defect

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Release 1.2