TOWARDS THE IDENTIFICATION OF CYSTINURIA NON-TYPE I GENE
- 2 Anni 1997/1999
- 82.633€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1999 NATURE GENETICS
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
- 2001 HUMAN MOLECULAR GENETICS
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
- 1999 GENOMICS
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1