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Human genetic disorders and knockout mice deficient in glycosaminoglycanXylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesisSkeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Advances in Skeletal Dysplasia GeneticsPGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutationsSpondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.First description of the complete human xylosyltransferase-I promoter regionJoint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.Salivary gland development and disease.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin DysplasiasExome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci.Effect of Xylosyltransferase-I Silencing on Implanting Growth of Salivary Pleomorphic Adenoma.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
P2860
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P2860
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 February 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
XYLT1 mutations in Desbuquois dysplasia type 2.
@en
XYLT1 mutations in Desbuquois dysplasia type 2.
@nl
type
label
XYLT1 mutations in Desbuquois dysplasia type 2.
@en
XYLT1 mutations in Desbuquois dysplasia type 2.
@nl
prefLabel
XYLT1 mutations in Desbuquois dysplasia type 2.
@en
XYLT1 mutations in Desbuquois dysplasia type 2.
@nl
P2093
P2860
P50
P1476
XYLT1 mutations in Desbuquois dysplasia type 2.
@en
P2093
Beyhan Tuysuz
Catherine Bui
Jules G Leroy
Patrick Nitschke
Yasemin Alanay
P2860
P304
P356
10.1016/J.AJHG.2014.01.020
P407
P50
P577
2014-02-27T00:00:00Z