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CTNS (gene)
CTNS Molecular Genetics Profile in a Persian Nephropathic Cystinosis Population
Supplemental Material Placed on This Supplemental Material Which Has Been Supplied by the Author(S) J Med Genet
CTNS Gene Cystinosin, Lysosomal Cystine Transporter
Its Place Among Other Genetic Causes of Renal Disease
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Gyrfalcons Falco Rusticolus Adjust CTNS Expression to Food Abundance: a Possible Contribution to Cysteine Homeostasis
The Genetics of Human Skin and Hair Pigmentation
Whole Exome Sequencing Identifies Causative Mutations in the Majority of Consanguineous Or Familial Cases with Childhood-Onset I
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis
A Chromosome-Centric Human Proteome Project (C-HPP) To
CTNS Sequence Analysis and 57 Kb Deletion Analysis
High SLC7A11 Expression in Normal Skin of Melanoma Patients T ⁎ Ismael Galvána, , Ângela Ináciob, María Dañinoc, Rosa Corbí-Llopisc, María T
Deletions of Recessive Disease Genes: CNV Contribution to Carrier States and Disease-Causing Alleles
Clinical Relevance of Small Copy-Number Variants in Chromosomal Microarray Clinical Testing
Journal.Pone.0149475
Maternal Uniparental Heterodisomy of Chromosome 17 in a Patient with Nephropathic Cystinosis
Product Description SALSA® MLPA® Probemix P473-A2 CTNS to Be Used with the MLPA General Protocol
Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation
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The 57 Kb Deletion in Cystinosis Patients Extends Into TRPV1
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis
Table S1. Complete List of Up- and Down-Regulated Genes in C1 Cells
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
The Role of Exosomes in Lysosomal Storage Disorders
Molecular Pathogenesis of Cystinosis: Effect of CTNS Mutations on the Transport Activity and Subcellular Localization of Cystinosin
1 Cystinosin Is a Melanosomal Protein That Regulates Melanin Synthesis
Automated Splicing Mutation Analysis by Information Theory
Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns
Mutational Spectrum of the CTNS Gene in Italy
Maternal Uniparental Heterodisomy of Chromosome 17 in a Patient with Nephropathic Cystinosis
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract
Supplemental Information Figure S1. Clc-5, Clc-4 and Clc-3
Microsatellite Scanning of the Immunogenome for Associations with Graft-Versus-Host Disease Following Haematopoietic Stem Cell Transplantation
CTNS Mrna Molecular Analysis Revealed a Novel Mutation in a Child
Understanding Cystinosis
Gyrfalcons Falco Rusticolus Adjust CTNS Expression to Food Abundance