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Functional validation of novel compound heterozygous varian..:
Job, Florian
;
Mizumoto, Shuji
;
Smith, Laurie
...
http://www.biomedcentral.com/1471-2350/17/86. , 2016
Link:
http://www.biomedcentral.com/1471-2350/17/86
RT Journal T1
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
UL https://suche.suub.uni-bremen.de/peid=base-ftbiomed:oai:biomedcentral.com:s12881-016-0344-9&Exemplar=1&LAN=DE A1 Job, Florian A1 Mizumoto, Shuji A1 Smith, Laurie A1 Couser, Natario A1 Brazil, Ashley A1 Saal, Howard A1 Patterson, Melanie A1 Gibson, Margaret A1 Soden, Sarah A1 Miller, Neil A1 Thiffault, Isabelle A1 Saunders, Carol A1 Yamada, Shuhei A1 Hoffmann, Katrin A1 Sugahara, Kazuyuki A1 Farrow, Emily PB BioMed Central Ltd. YR 2016 K1 B3GAT3 K1 Glycosaminoglycan K1 Glucuronyltransferase-I K1 Linkeropathy K1 Proteoglycan JF http://www.biomedcentral.com/1471-2350/17/86 LK http://www.biomedcentral.com/1471-2350/17/86 DO http://www.biomedcentral.com/1471-2350/17/86 SF ELIB - SuUB Bremen
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