Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

Human genetics

Volumn 122, Issue 3-4, 2007, Pages 414-

  Minucci, Angelo ^a   Capoluongo, Ettore ^a   Concolino, Paola ^a   Concetta, Santonocito ^a   Zuppi, Cecilia ^a   Giardina, Bruno ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COL4A5 PROTEIN, HUMAN; COLLAGEN TYPE 4; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; FEMALE; GENETICS; HUMAN; MALE; NEPHRITIS; STOP CODON;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; COLLAGEN TYPE IV; FEMALE; HUMANS; MALE; NEPHRITIS, HEREDITARY;

EID: 41449085946     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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