Detection of mutations in COL4A5 in patients with alport syndrome

Human Mutation

Volumn 13, Issue 2, 1999, Pages 124-132

  Plant, Kate E ^a   Green, Peter M ^a   Vetrie, David ^a,b   Flinter, Frances A ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Alpoft syndrome; COL4A5; Hereditary nephritis; Mutation detection; Single strand conformation polymorphism (SSCP) analysis

Indexed keywords

COLLAGEN; GLYCINE;

ALPORT SYNDROME; ARTICLE; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CODON, NONSENSE; COLLAGEN; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0032965096     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z     Document Type: Article

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