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

Clinical Genetics

Volumn 82, Issue 3, 2012, Pages 297-299

  Tsiakkis, D ^a   Pieri, M ^a   Koupepidou, P ^a   Demosthenous, P ^a   Panayidou, K ^b   Deltas, C ^a  

^a UNIVERSITY OF CYPRUS   (Cyprus)

^b EUROPEAN UNIVERSITY CYPRUS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

COL4A5 PROTEIN; COLLAGEN TYPE 4; UNCLASSIFIED DRUG;

ALGORITHM; ALPORT SYNDROME; AMINO ACID SUBSTITUTION; BONE DEVELOPMENT; EXON; GENE MUTATION; GENOTYPE; HUMAN; KIDNEY FAILURE; LETTER; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PUBLICATION;

COLLAGEN TYPE IV; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; REGRESSION ANALYSIS;

EID: 84865065124     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01849.x     Document Type: Letter

References (7)

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