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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in ...
Mutation analysis of the ABCC6 gene in the family. (a) Identification ...
Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations ...
(PDF) Mutation detection in the ABCC6 gene and genotype-phenotype ...
(PDF) ABCC6 Mutation in Patients with Angioid Streaks
Hypomorphic Abcc6 mutation segregates with calcification phenotype in ...
Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation ...
Heterozygous ABCC6 mutation in a patient with sickle cell disease ...
A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma ...
ABCC6 gene/protein structure and sequence variants found in this study ...
Localization and structure of the ABCC6 gene on chromosome 16 Two ABCC6 ...
Frontiers | Transcriptional regulation of the ABCC6 gene and the ...
Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using ...
Structural and Functional Characterization of the ABCC6 Transporter in ...
Reduced Abcc6 mRNA and protein expression in DBA/2 mice is caused by a ...
A Heterozygous ABCC6 Variant as a Potential Contributor to Choroidal ...
The location of the ABCC6 gene and neighboring genes in 16p13.1. Arrows ...
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial ...
Identification of a New Splice Variant of the Human ABCC6 Transporter - PMC
Nucleotide sequence of exon 27 of the ABCC6 gene. Arrow indicates the ...
The Human Face of ABCC6 - Terry - 2020 - FEBS Letters - Wiley Online ...
Retinal findings in carriers of monoallelic ABCC6 mutations | British ...
(PDF) Transcriptional regulation of the ABCC6 gene and the background ...
Clinical findings and ABCC6 mutations of case 2. (a) Angioid streaks ...
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from ...
Reassessment of causality of ABCC6 missense variants associated with ...
Position of the missense mutations through the ABCC6 protein ...
Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi ...
The Expression Level of ABCC6 Transporter in Colon Cancer Cells ...
Frontiers | Two genetic variants in NEXN and ABCC6 genes found in a ...
The ABCC6 Transporter: A New Player in Biomineralization
Abcc6 is a promising candidate gene. (A) 129S1 mice share a common ...
A 5-bp deletion in the Abcc6 mRNA in KK/HlJ mice is shown. RT-PCR ...
Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a ...
Clinical data of PXE patients (ID) based on Phenodex index and ABCC6 ...
Predicted topology of ABCC6 and the location of six mutations causing ...
Mutations in ABCC6 cause pseudoxanthoma elasticum | Nature Genetics
Pictorial presentation of ABCC6 expression and affected tissues in ...
Western blot analysis of ABCC6 protein isolated from the liver of mice ...
Frontiers | ABCC6 Knockdown Fuels Cell Proliferation by Regulating ...
(A,B) Sanger sequencing validation of NEXN variant and ABCC6 variant in ...
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 ...
A novel ABCC6 variant causative of pseudoxanthoma elasticum | Human ...
Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature ...
Mutation Analysis (ABCC6) in a Family with Pseudoxanthoma Elasticum ...
Schematic presentation of ABCC6 expression regulation by the ERK1/2 ...
Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma ...
Mutations found in ABCC6 associated with PXE | Download Table
The predicted two-dimensional topology of the ABCC6 protein. The ABCC6 ...
Function and intracellular localization of ABCC6 variants. | Download Table
Summary of PXE-associated ABCC6 mutations. | Download Table
Figure3.Results of a genetic analysis of HTRA1 and ABCC6 in the ...
Interaction network of ABCC6 consisting of known physical... | Download ...
Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in ...
Abcc6 Deficiency Causes Increased Infarct Size and Apoptosis in a Mouse ...
Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy ...
Clinical findings, histology and ABCC6 mutations of case 1. (a) Angioid ...
(PDF) Mutations in the ABCC6 Gene as a Cause of Generalized Arterial ...
—Overview of ABCC6 and PKD1 duplications. (A) The approximate position ...
| Transcriptome-wide analysis of ABCC6 knockdown 97H cells. (A) Venn ...
ABCC6 Is a Basolateral Plasma Membrane Protein | Circulation Research
ABCC6 Localizes to the Mitochondria-Associated Membrane | Circulation ...
Disruption of Abcc6 Transporter in Zebrafish Causes Ocular ...
Frontiers | The molecular and physiological roles of ABCC6: more than ...
Pseudoxanthoma Elasticum-Like Disease | Hereditary Ocular Diseases
Clinical and Molecular Characterization of a Patient with Generalized ...
JCM | Free Full-Text | Plasma Level of Pyrophosphate Is Low in ...
Investigating Mutations in Member 6 (ABCC6) gene, of Sub-family C (CFTR ...
Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese ...
Structural analysis reveals pathomechanisms associated with ...
Positions of the investigated mutants in the membrane topology model of ...
Frontiers | Generalized arterial calcification of infancy and ...
Generalized Arterial Calcification of Infancy and Pseudoxanthoma ...
Membrane topology and homology model of the human ABCC6. A: The ...
10-K
The Purinergic Nature of Pseudoxanthoma Elasticum[v1] | Preprints.org
ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions
Genetic heterogeneity of heritable ectopic mineralization disorders in ...
Zimmermann Laboratory | Medical College of Wisconsin
(PDF) Clinical and Molecular Characterization of a Patient with ...
Review of the disorders and pathophysiological mechanisms associated ...
ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the ...
Recurrent strokes and seizures in a young lady with thrombocytopenia: a ...
Pseudoxanthoma Elasticum | Hereditary Ocular Diseases
Pedigree of kindred GO. The proband, indicated by an arrow, was a ...
Pyrophosphate Supplementation Prevents Chronic and Acute Calcification ...
Supplemental Materials for Pyrophosphate Supplementation Prevents ...
Biochemical characterization of the human WT and mutant ABCC6. A ...
Assessment of a rapid-cycle PCR assay for the identification of the ...
Full article: Generalized Arterial Calcification of Infancy (GACI ...
