Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Vicente C. Quintanilla"'
Autor:
Vicente C. Quintanilla, Cecilia R Giulivi, Donna F. Kusewitt, Jimi L. Brandon, Fernando Benavides, Jean Jaubert, Kirstin F. Barnhart, Irma B. Gimenez-Conti, Nancy W. Otto, Catherine Ross-Inta, John DiGiovanni, Claudio J. Conti, Carlos J. Perez, Jean-Louis Guénet, Isabelle Aubin
Publikováno v:
American Journal of Pathology
American Journal of Pathology, 2010, 177 (4), pp.1958-1968. ⟨10.2353/ajpath.2010.100118⟩
American Journal of Pathology, American Society for Investigative Pathology, 2010, 177 (4), pp.1958-1968. ⟨10.2353/ajpath.2010.100118⟩
American Journal of Pathology, 2010, 177 (4), pp.1958-1968. ⟨10.2353/ajpath.2010.100118⟩
American Journal of Pathology, American Society for Investigative Pathology, 2010, 177 (4), pp.1958-1968. ⟨10.2353/ajpath.2010.100118⟩
International audience; Citrullinemia type I (CTLN1, OMIM# 215700) is an inherited urea cycle disorder that is caused by an argininosuccinate synthetase (ASS) enzyme deficiency. In this report, we describe two spontaneous hypomorphic alleles of the m