A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Peissel
B
B
Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, Italy.
Rossetti
S
S
Renieri
A
A
Galli
L
L
De Marchi
M
M
Battini
G
G
Meroni
M
M
Sessa
A
A
Schiavano
S
S
Pignatti
P F
PF
D000227:Adenine Nucleotides / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000032:analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D009690:Nucleic Acid Conformation; D009692:Nucleic Acid Heteroduplexes; D010375:Pedigree; D011110:Polymorphism, Genetic
D000227:Adenine Nucleotides; D017931:DNA Primers; D004277:DNA, Single-Stranded; D009692:Nucleic Acid Heteroduplexes; D003094:Collagen