Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
Tverskaya
S
S
Research Centre for Medical Genetics, Moscow, Russia.
Bobrynina
V
V
Tsalykova
F
F
Ignatova
M
M
Krasnopolskaya
X
X
Evgrafov
O
O
D001483:Base Sequence; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
D017931:DNA Primers; D003094:Collagen