Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
about
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case reportMetabolon disruption: a mechanism that regulates bicarbonate transportFunctional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9A member of a family of sulfate-activating enzymes causes murine brachymorphismA web tool for finding gene candidates associated with experimentally induced arthritis in the rat.Human genetic disorders and knockout mice deficient in glycosaminoglycanIn vivo Drosophilia genetic model for calcium oxalate nephrolithiasisThrombocytopenia-absent radius syndrome: a clinical genetic study.Achondrogenesis type 1BAtelosteogenesis type 2.Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) geneIdentification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.The different roles of aggrecan interaction domainsAdvances in endocrinologyDyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene.From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum AminotransferasesAbnormal sulfate metabolism in vitamin D-deficient rats.Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain.Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
P2860
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P2860
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@ast
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@en
type
label
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@ast
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@en
prefLabel
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@ast
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@en
P2093
P2860
P1476
Atelosteogenesis type II is ca ...... lving three chondrodysplasias.
@en
P2093
A Superti-Furga
D L Rimoin
E S Lander
J Hästbacka
W R Wilcox
P2860
P304
P407
P577
1996-02-01T00:00:00Z