Reference health
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
33/33 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
11 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 33 checked references that resolve
resolves10.1016/S0960-9822(00)00335-3
The STAS domain — a link between anion transporters and antisigma-factor antagonists
resolves10.1016/S0021-9258(17)42040-0
Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes.
resolves10.1016/S0022-3476(88)80113-6
Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups
resolves10.1002/(SICI)1096-8628(19980616)78:1<58::AID-AJMG12>3.0.CO;2-N
Mutational analysis of theDTDST gene in a fetus with achondrogenesis type 1B
resolves10.1002/(SICI)1096-8628(19960503)63:1<90::AID-AJMG18>3.0.CO;2-P
Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy
resolves10.1073/pnas.87.20.8056
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
resolves10.1038/ng1192-204
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
resolves10.1136/jmg.30.4.265
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
resolves10.1016/0092-8674(94)90281-X
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
resolves10.1038/sj.ejhg.5200361
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
resolves10.1038/ng1196-316
Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
resolves10.1006/bbrc.1997.7380
Cloning and Characterization of the 5′-Flanking Region of the Mouse Diastrophic Dysplasia Sulfate Transporter Gene
resolves10.1016/S0378-1119(97)00336-3
Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2
resolves10.1034/j.1399-0004.1999.560110.x
Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia
resolves10.1074/jbc.271.31.18456
Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter
resolves10.1007/s004390050279
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
resolves10.1111/j.1432-1033.1997.t01-1-00741.x
Undersulfation of Cartilage Proteoglycans <i>Ex Vivo</i> and Increased Contribution of Amino Acid Sulfur to Sulfation <i>In Vitro</i> in McAlister Dysplasia/Atelosteogenesis Type 2
resolves10.1016/S0945-053X(98)90088-9
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production
resolves10.1038/ng0196-100
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
resolves10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N
A chondrodysplasia family produced by mutations in thediastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
resolves10.1002/(SICI)1096-8628(19980217)75:5<518::AID-AJMG12>3.0.CO;2-N
Antenatal diagnosis of lethal skeletal dysplasias
resolves10.1038/2458
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
resolves10.3109/15513818809022316
Achondrogenesis…Hypochondrogenesis: the Spectrum of Chondrogenesis Imperfecta a Radiological, Ultrasonographic, and Histopathologic Study of 23 Cases
The 11 references without a DOI — listed, not checked
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no DOI — not checkedBIB40
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