Journal article

Mutations in the COL4A4 gene in thin basement membrane disease

M Buzza, H Dagher, YY Wang, D Wilson, JJ Babon, RG Cotton, J Savige

Kidney International | BLACKWELL PUBLISHING INC | Published : 2003

DOI: 10.1046/j.1523-1755.2003.00780.x

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Keywords

Dysmorphic Red Blood Cells
Codon, Terminator
R1377x Mutation
Glycine
Polymorphisms
Chains
Benign Familial Hematuria
Spectrum
Expression
Aged
Basement Membrane
Middle Aged
Model
Amino Acid Substitution
Urology & Nephrology
S969x Mutation
Female
Child
Mutation
Frameshift Mutation
Adult
Science & Technology
Recessive Alport-Syndrome
Codon, Nonsense
Gene Mutations
Humans
Life Sciences & Biomedicine
Adolescent
Hematuria
Collagen Type Iv
Messenger-Rna
Familial Glomerulonephritis
Heredity
Identification
Male
Iv Collagen Alpha-3