Pregled bibliografske jedinice broj: 34720
Acute renal failure in an infant with partial deficiency of hypoxanthine phosporybosiltransferase caused by novel G140S mutation
Acute renal failure in an infant with partial deficiency of hypoxanthine phosporybosiltransferase caused by novel G140S mutation // - / - (ur.).: -, 1998. str. 124-124 (poster, nije recenziran, sažetak, znanstveni)
CROSBI ID: 34720 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Acute renal failure in an infant with partial deficiency of hypoxanthine phosporybosiltransferase caused by novel G140S mutation
Autori
Barić, Ivo ; Sarnavka, Vladimir ; Begović, Davor ; Willers, I.
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Mjesto i datum
,
Vrsta sudjelovanja
Poster
Vrsta recenzije
Nije recenziran
Ključne riječi
hypoxanthine phosphorybosiltransferase deficency
Sažetak
HPRT deficiency present with a variety of symptoms depending of the residual enzyme activity. Complete or nearla complete deficiency causes Lesch-Nyhan syndrome characterized by mental retardation, slf mutilation, choreoathetosis , other neurological symptoms and complications of hyperuricemmia. gene analysis revealed a novel mmissense mutation G140S in exon 6 of HPRT gene. It is based substitution GGC AGC at position 418, creating a new restriction site for Bfal
Izvorni jezik
Engleski
Znanstvena područja
Dentalna medicina
