[HTML] plos.org

[HTML][HTML] X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations

J Savige, H Storey, H Il Cheong, H Gyung Kang… - PLoS …, 2016 - journals.plos.org
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …
被引用次数：100 相关文章

[引用][C] X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

J Savige, H Storey, H Il Cheong, H Gyung Kang… - PLoS …, 2016 - ui.adsabs.harvard.edu
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further
Genotype-Phenotype Correlations - NASA/ADS Now on home page ads icon ads Enable full …

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

J Savige, H Storey, HI Cheong, HG Kang… - PloS …, 2016 - pubmed.ncbi.nlm.nih.gov
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …

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

J Savige, H Storey, H Il Cheong, H Gyung Kang, E Park… - PloS one, 2016 - ddd.uab.cat
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …

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

J Savige, H Storey, HI Cheong… - PLOS …, 2016 - findresearchersdu.elsevierpure.com
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …

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

J Savige, H Storey, I Cheong, E Park, P Hilbert… - Plos one, 2016 - europepmc.org
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …
[PDF] semanticscholar.org

[PDF][PDF] X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

J Savige, H Storey, H Il Cheong… - PLoS …, 2016 - pdfs.semanticscholar.org
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …

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

J Savige, H Storey, H Il Cheong, H Gyung Kang… - PLoS …, 2016 - search.ebscohost.com
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …
[PDF] researchgate.net

[PDF][PDF] X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

J Savige, H Storey, H Il Cheong, H Gyung Kang… - PLoS ONE, 2016 - researchgate.net
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …
[PDF] core.ac.uk

[PDF][PDF] X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

J Savige, H Storey, HI Cheong, HG Kang, E Park… - PLOS ONE, 2016 - core.ac.uk
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …