Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
about
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.The genetic and developmental basis of an exaggerated craniofacial trait in East African cichlids.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin DysplasiasNovel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
P2860
Q30313677-7D3E190F-54E5-4D2D-B3C8-93489F040683Q38675062-32E39B86-4BBF-4086-8874-F4775D8F793EQ40134038-A4C62D0C-5FD9-453B-84ED-8C8595EC969CQ40614981-573EE89B-3DCB-42E6-B481-BACC024255A7Q42059726-9C70FABE-DEC7-4392-81A9-A1A1EA834D74Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0Q53128188-5E328133-0F75-4AC5-B047-20B0E776ABAD
P2860
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
description
2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im Juli 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/07/01)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/07/01)
@nl
наукова стаття, опублікована в липні 2015
@uk
مقالة علمية (نشرت في يوليو 2015)
@ar
name
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@ast
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@en
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@nl
type
label
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@ast
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@en
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@nl
prefLabel
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@ast
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@en
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@nl
P2093
P2860
P50
P921
P1433
P1476
Skeletal dysplasia in a consan ...... by a novel mutation in B3GAT3
@en
P2093
Birgit S. Budde
Christian Becker
Gerrit Kaleschke
Holger Thiele
Johannes M. Hämmerle
Kazuyuki Sugahara
Mohammad R. Toliat
Ryo Kogawa
Shuji Mizumoto
Wolfgang Höhne
P2860
P2888
P304
P356
10.1007/S00439-015-1549-2
P577
2015-07-01T00:00:00Z
P6179
1047970236