Rahuel-Clermont(Sophie),Daligault(Franck),Pi… Biochem J 2010-12-30

...B4GALT7 gene [encoding β1,4-GalT7 (β1,4-galactosyltransferase 7)], corresponding to A186D, L206P and R270C, have been id...

Bret(Caroline),Hose(Dirk),Reme(Thierry),Spry… Br J Haematol 2009-06-24

...B4GALT7, CSGALNACT1, HS2ST1 were associated with a good prognosis whereas EXT1 was linked to a bad prognosis. This study...

Seidler(Daniela G),Faiyaz-Ul-Haque(Muhammad)… J Mol Med (Berl) 2007-04-19

...B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a ...

Faiyaz-Ul-Haque(Muhammad),Zaidi(Syed Hassan … Am J Med Genet A 2004-12-22

...B4GALT7) located on chromosome 5q35.2, where the previously reported progeroid-like variant of EDS has been mapped. Exon...

Salter(Claire G),Davies(Justin H),Moon(Rebec… Am J Med Genet A 0000-00-00

...B4GALT7. We report two newly described patients with compound heterozygous mutations in B4GALT7, and show that the six i...

Arunrut(Teda),Sabbadini(Marta),Jain(Mahim),M… Am J Med Genet A 0000-00-00

...B4GALT7) gene. Variant segregation was consistent with autosomal recessive inheritance and the missense substitution was...

Leegwater(Peter A),Vos-Loohuis(Manon),Ducro(… BMC Genomics 0000-00-00

...B4GALT7 mRNA in fibroblasts from a dwarf is only 2 % compared to normal levels. Mutations in B4GALT7 in humans are assoc...