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  • Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences
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Article  



Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

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Date
2012
Author
Tsiakkis, D.
Pieri, Myrtani
Koupepidou, P.
Demosthenous, Panayiota
Panayidou, K.
ORCID logoConstantinou-Deltas, Constantinos D.
Source
Clinical genetics
Volume
82
Pages
297-299

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Keyword(s):
Female
Male
human
Humans
Regression Analysis
algorithm
priority journal
prognosis
publication
genotype
exon
unclassified drug
letter
phenotype
gene mutation
collagen type 4
kidney failure
Genetic Association Studies
Collagen Type IV
protein domain
amino acid substitution
missense mutation
Mutation, Missense
Alport syndrome
Nephritis, Hereditary
bone development
col4a5 protein

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Links
https://www.scopus.com/inward/record.uri?eid=2-s2.0-84865065124&doi=10.1111%2fj.1399-0004.2012.01849.x&partnerID=40&md5=b02cce2913f3377860591e310df038cf
DOI
10.1111/j.1399-0004.2012.01849.x
URI
http://gnosis.library.ucy.ac.cy/handle/7/53423
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  • Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences [646]

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