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Frenezie Facilita Educația școlară col4a5 gene mutation durere de dinţi Curiozitate Legitim

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio  Grande do Norte, Brazil | bioRxiv
Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil | bioRxiv

A disease-causing variant of COL4A5 in a Chinese family with Alport  syndrome: a case series | BMC Nephrology | Full Text
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text

A disease-causing variant of COL4A5 in a Chinese family with Alport  syndrome: a case series | BMC Nephrology | Full Text
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in  podocyte-lineage cells | European Journal of Human Genetics
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | European Journal of Human Genetics

Genomic organization of COL4A3–COL4A6 genes, and genetic forms of... |  Download Scientific Diagram
Genomic organization of COL4A3–COL4A6 genes, and genetic forms of... | Download Scientific Diagram

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant  Features and Further Genotype-Phenotype Correlations | PLOS ONE
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations | PLOS ONE

COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody

Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome
Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome

Frontiers | The Contribution of COL4A5 Splicing Variants to the  Pathogenesis of X-Linked Alport Syndrome
Frontiers | The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked  Alport Syndrome Families in Greece
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. |  Download Scientific Diagram
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram

Mutations Detected in the COL4A5 Gene by Direct Sequencing of Hair Root...  | Download Table
Mutations Detected in the COL4A5 Gene by Direct Sequencing of Hair Root... | Download Table

Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5  Identified in Familial Cases of Prelingual Hearing Loss
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

Genetics Overview | Alport Syndrome Foundation
Genetics Overview | Alport Syndrome Foundation

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating  in the Middle Ages is predominant in Central/East Europe and causes kidney  failure in midlife - ScienceDirect
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife - ScienceDirect

Development of an exon skipping therapy for X-linked Alport syndrome with  truncating variants in COL4A5 | Nature Communications
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications

Frontiers | Molecular dynamics and minigene assay of new splicing variant  c.4298-20T>A of COL4A5 gene that cause Alport syndrome
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

COL4A3 mutation is an independent risk factor for poor prognosis in  children with Alport syndrome
COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine  1205 to Valine - Pilar Antón-Martín, Cristina Aparicio López, Soraya  Ramiro-León, Sonia Santillán Garzón, Fernando Santos-Simarro, Belén  Gil-Fournier, 2012
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine - Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León, Sonia Santillán Garzón, Fernando Santos-Simarro, Belén Gil-Fournier, 2012

Frontiers | Novel Therapies for Alport Syndrome
Frontiers | Novel Therapies for Alport Syndrome

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients  with Alport Syndrome using next generation sequence technique - Zhao - 2019  - Molecular Genetics & Genomic Medicine - Wiley Online Library
Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique - Zhao - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Identification of four novel mutations in the COL4A5 gene identified in  Chinese patients with X‑linked Alport syndrome
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome

Alport syndrome X-linked. COL4A5 gene. | Download Scientific Diagram
Alport syndrome X-linked. COL4A5 gene. | Download Scientific Diagram

A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA  nephropathy and chronic glomerulonephritis - Zhu - 2020 - Journal of  Clinical Laboratory Analysis - Wiley Online Library
A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis - Zhu - 2020 - Journal of Clinical Laboratory Analysis - Wiley Online Library

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X  mutation - ScienceDirect
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation - ScienceDirect

Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a  t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5)  and Their Association With Other Kidney Conditions: A Review - American  Journal of Kidney Diseases
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review - American Journal of Kidney Diseases