MOLECULAR ANALYSIS OF THE CLINICAL HETEROGENEITY OF TUBEROUS SCLEROSIS
- 2 Anni 1995/1997
- 51.646€ Totale Fondi
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Pubblicazioni Scientifiche
- 1997 NEPHROLOGY DIALYSIS TRANSPLANTATION
A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease
- 1994 HUMAN MOLECULAR GENETICS
9Q34 LOSS OF HETEROZYGOSITY IN A TUBEROUS SCLEROSIS ASTROCYTOMA SUGGESTS A GROWTH SUPPRESSOR-LIKE ACTIVITY ALSO FOR THE TSC1 GENE
- 1996 GENES CHROMOSOMES & CANCER
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas
- 1997 JOURNAL OF MEDICAL GENETICS
Tuberous sclerosis complex: Neonatal deaths in three of four children of consanguineous, non-expressing parents
- 1997 GENOMICS
A novel SH3-containing human gene family preferentially expressed in the central nervous system
- 1997 NEPHROLOGY DIALYSIS TRANSPLANTATION
Alport syndrome - is there a genotype-phenotype relationship?
