Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome

Human mutation

Volumn 20, Issue 4, 2002, Pages 321-322

  Dagher, Hayat ^a   Yan Wang, Yan ^a   Fassett, Rob ^b   Savige, Judy ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b LAUNCESTON GENERAL HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COL4A4 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CONSANGUINITY; EXON; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOTE DETECTION; HUMAN; MISSENSE MUTATION; MUTATION; NEPHRITIS; RECESSIVE GENE; STOP CODON;

ADULT; AMINO ACID SUBSTITUTION; CODON, TERMINATOR; COLLAGEN TYPE IV; CONSANGUINITY; EXONS; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HUMANS; MUTATION; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY;

EID: 0036777420     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9065     Document Type: Article

References (0)