1,720,993 research outputs found
MUTATION DETECTION IN PHENYLKETONURIA BY USING CHEMICAL CLEAVAGE OF MISMATCH - IMPORTANCE OF USING PROBES FROM BOTH NORMAL AND PATIENT SAMPLES
No full text2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY
No full text
CATALYTIC ACTIVITY OF TETRAHYDROBIOPTERIN IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY AND INDICATIONS FOR TREATMENT
No full textScreening for mutations in the phenylalanine hydroxylase gene in Italian PKU patients using the Chemical cleavage method: a new splice mutation
No full textSCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION
No full textMOLECULAR ANALYSIS OF CONTIGUOUS EXONS OF THE PHENYLALANINE-HYDROXYLASE GENE - IDENTIFICATION OF A NEW PKU MUTATION
No full text
- …
