Condition: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE


rs876657397 in COL4A3;COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 23927549 2014 A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

PMID 28570636 2017 Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

PMID 22887978 2012 Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

PMID 24633401 2014 Natural history of genetically proven autosomal recessive Alport syndrome.

rs1060499654 in COL4A3;MFF-DT gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

PMID 22887978 2012 Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

PMID 7987301 1994 Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11134255 2001 Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

PMID 24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

PMID 7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PMID 27627812 2016 X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

PMID 11044206 2000 Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.

PMID 28542346 2017 Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

PMID 27281700 2016 Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

PMID 24854265 2014 Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

PMID 15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

PMID 18436078 2008 Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.

rs121912858 in COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 9792860 1998 Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

PMID 7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.

PMID 26809805 2016 Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28542346 2017 Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

PMID 25596306 2014 COL4A3 mutations cause focal segmental glomerulosclerosis.

PMID 16338941 2006 Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

PMID 27281700 2016 Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

PMID 24633401 2014 Natural history of genetically proven autosomal recessive Alport syndrome.

PMID 12748344 2003 Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome.

PMID 24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

PMID 25755845 2014 COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.

PMID 12325029 2002 Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

PMID 26934356 2016 Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

PMID 24854265 2014 Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

PMID 17396119 2007 Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

PMID 28632965 2017 Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

PMID 19129241 2009 Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

PMID 15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

rs1553725815 in COL4A4;COL4A3 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 23297803 2013 A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

rs121912827 in MFF-DT;COL4A3 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

PMID 24854265 2014 Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

PMID 9195222 1997 The clinical spectrum of type IV collagen mutations.

PMID 11134255 2001 Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

PMID 24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11044206 2000 Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

PMID 25575550 2015 Evidence of digenic inheritance in Alport syndrome.

PMID 25514610 2014 Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

PMID 28117080 2017 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

PMID 15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.

PMID 7780062 1995 Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.

PMID 24633401 2014 Natural history of genetically proven autosomal recessive Alport syndrome.

PMID 12028435 2002 COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

PMID 18436078 2008 Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.

PMID 27627812 2016 X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

PMID 24033287 2014 Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

PMID 26346198 2016 Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.