Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome.
Hämäläinen
E R
ER
Department of Medical Biochemistry, University of Oulu, Finland.
Renieri
A
A
Pecoraro
C
C
De Marchi
M
M
Pihlajaniemi
T
T
D000293:Adolescent; D000595:Amino Acid Sequence; D001482:Base Composition; D001483:Base Sequence; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis / Q000235:genetics*; D003434:Crossing Over, Genetic; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008875:Middle Aged; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012091:Repetitive Sequences, Nucleic Acid
D017931:DNA Primers; D003094:Collagen