MOLECULAR GENETICS OF ALPORT SYNDROME
- 2 Anni 1994/1996
 - 87.798€ Totale Fondi
 
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Pubblicazioni Scientifiche
- 1996-06-01 AMERICAN JOURNAL OF HUMAN GENETICS 
X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene
 - 1995-11-20 AMERICAN JOURNAL OF MEDICAL GENETICS 
MAJOR COL4A5 GENE REARRANGEMENTS IN PATIENTS WITH JUVENILE TYPE ALPORT SYNDROME
 - 1995-11-01 CLINICAL GENETICS 
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
 - 1994-01-01 HUMAN MUTATION 
DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS
 - 1998-01-01 HUMAN MUTATION 
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome