Detalhe da pesquisa
1.
Characterization of phenylketonuria alleles in the Italian population.
Eur J Hum Genet
; 3(5): 294-302, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-8556304
2.
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
Hum Mutat
; 13(6): 503-4, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10408783
3.
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation.
Blood
; 89(8): 2871-9, 1997 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-9108407
4.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Hum Mutat
; 12(4): 267-73, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9744478
5.
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
J Inherit Metab Dis
; 23(4): 333-7, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10896287