Zobrazeno 1 - 4
of 4
pro vyhledávání: '"B. S. Gathoff"'
Autor:
Felícitas A. Mateos, Rosa J. Torres, R. M. Gundel, J.P. O'Neill, B. S. Gathoff, J. Molano, L. Trombley, Juan G. Puig
Publikováno v:
Purine and Pyrimidine Metabolism in Man X ISBN: 0306465159
Mutations found in Spanish deficient families are heterogeneous: 8 point mutations, 3 deletions and 2 insertions, and are dispersed all over the HPRT gene. There is not a prevalent mutation in the Spanish HPRT deficient population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5443d628b8877d11ae4033119bf11783
https://doi.org/10.1007/0-306-46843-3_3
https://doi.org/10.1007/0-306-46843-3_3
Autor:
R J, Torres, F A, Mateos, J, Molano, B S, Gathoff, J P, O'Neill, R M, Gundel, L, Trombley, J G, Puig
Publikováno v:
Advances in experimental medicine and biology. 486
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6ec450d05d774f8ce65b87c386a4eb5
https://pubmed.ncbi.nlm.nih.gov/11783464
https://pubmed.ncbi.nlm.nih.gov/11783464
Autor:
R J, Torres, F A, Mateos, J, Molano, B S, Gathoff, J P, O'Neill, R M, Gundel, L, Trombley, J G, Puig
Publikováno v:
Human mutation. 15(4)
We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2559a0cf8f2bc8eb403286096304c2f7
https://pubmed.ncbi.nlm.nih.gov/10737990
https://pubmed.ncbi.nlm.nih.gov/10737990
Autor:
R. M. Gundel, J.P. O'Neill, J. Molano, L. Trombley, R.J. Torres, F.A. Mateos, J.G. Puig, B. S. Gathoff
Publikováno v:
Scopus-Elsevier
We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf86c51992ea07b60c5254ec57aedf9
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<383::aid-humu17>3.0.co
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<383::aid-humu17>3.0.co