Zobrazeno 1 - 4
of 4
pro vyhledávání: '"G. E. Tiller"'
Autor:
Regis J. O'Keefe, Randy N. Rosier, G. E. Tiller, J. E. Puzas, Hongbo Chi, P. R. Romano, M.J. Dasouki, Jun Wang, Paul R. Reynolds
Publikováno v:
Genomics. 56:324-336
Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c587d48d8743dfa113728f9c91f545d1
https://doi.org/10.1006/geno.1998.5736
https://doi.org/10.1006/geno.1998.5736
Autor:
Bruno Dallapiccola, Antonio Pizzuti, Tania Dottorini, Anna Sarkozy, Giorgia Esposito, Emanuela Conti, G. E. Tiller
Publikováno v:
Scopus-Elsevier
PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met. In this work we describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ef0baa2f2447748e659318c9bfb0c5
https://pubmed.ncbi.nlm.nih.gov/14961557
https://pubmed.ncbi.nlm.nih.gov/14961557
Publikováno v:
The Journal of biological chemistry. 267(31)
The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal forms. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::111186a9fe1edc0949a897554b0d374b
https://pubmed.ncbi.nlm.nih.gov/1429602
https://pubmed.ncbi.nlm.nih.gov/1429602
Publikováno v:
Human Mutation; Jun2003, Vol. 21 Issue 6, p654, 1p