MOLECULAR GENETICS OF ALPORT SYNDROME
- 2 Anni 1994/1996
- 87.798€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1996 AMERICAN JOURNAL OF HUMAN GENETICS
X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene
- 1998 HUMAN MUTATION
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome
- 1994 HUMAN MUTATION
DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS
- 1995 AMERICAN JOURNAL OF MEDICAL GENETICS
MAJOR COL4A5 GENE REARRANGEMENTS IN PATIENTS WITH JUVENILE TYPE ALPORT SYNDROME
- 1995 CLINICAL GENETICS
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
