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

Date

2012

Author

Tsiakkis, D.
Pieri, Myrtani
Koupepidou, P.
Demosthenous, Panayiota
Panayidou, K.
Constantinou-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

Metadata

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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

Collections

• Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences [646]

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