Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.

Renieri, A., Seri, M., Galli, L., Cosci, P., Imbasciati, E., Massella, L., et al. (1993). Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. HUMAN GENETICS, 92(4), 417-420 [10.1007/BF01247348].

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

RENIERI A.;
1993-01-01

Abstract

Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.
1993
Renieri, A., Seri, M., Galli, L., Cosci, P., Imbasciati, E., Massella, L., et al. (1993). Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. HUMAN GENETICS, 92(4), 417-420 [10.1007/BF01247348].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/38800
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