X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene

American Journal of Human Genetics

Volumn 58, Issue 6, 1996, Pages 1192-1204

  Renieri, A ^a   Bruttini, M ^a   Galli, L ^a   Zanelli, P ^a   Neri, T ^a   Rossetti, S ^a   Turco, A ^a   Heiskari, N ^a   Zhou, J ^a   Gusmano, R ^a   Massella, L ^a   Banfi, G ^a   Scolari, F ^a   Sessa, A ^a   Rizzoni, G ^a   Tryggvason, K ^a   Pignatti, P F ^a   Savi, M ^a   Ballabio, A ^a   De Marchi, M ^a  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; DNA;

ADULT; ALPORT SYNDROME; ARTICLE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; GLOMERULONEPHRITIS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON; COLLAGEN; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GLYCINE; HUMANS; KIDNEY FAILURE, CHRONIC; MACROMOLECULAR SUBSTANCES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEPHRITIS, HEREDITARY; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; SEQUENCE DELETION; X CHROMOSOME;

EID: 0029931071     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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