Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
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United States: Elsevier Inc
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Language
English
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Publisher
United States: Elsevier Inc
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Contents
X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain (α5(IV)). Complete absence of α5(IV) in the renal basal membrane is considered a pathological characteristic in male patients; however, positive α5(IV) staining has been found in over 20% of patients. We retrospectively studied 52 genetically d...
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Full title
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
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TN_cdi_proquest_miscellaneous_1521327093
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1521327093
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ISSN
0085-2538
E-ISSN
1523-1755
DOI
10.1038/ki.2013.479
