Authors:
CALVAS P
SEGUES B
ROZET JM
RABIER D
BONNEFOND JP
MUNNICH A
Citation: P. Calvas et al., NOVEL INTRAGENIC DELETIONS AND POINT MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 1998, pp. 81-84
Authors:
SOUIED E
MASHHOUR B
MOREL X
COHEN Y
BONNEFOND JP
MUNNICH A
CHAUVAUD D
RENARD G
KAPLAN J
Citation: E. Souied et al., RETINAL BRANCH VEIN OCCLUSION ASSOCIATED WITH MACULAR DYSTROPHY, MATERNALLY INHERITED DIABETES, AND DEAFNESS, Ophthalmic genetics, 18(3), 1997, pp. 157-160
Authors:
GILBERTDUSSARDIER B
SEGUES B
ROZET JM
RABIER D
CALVAS P
DELUMLEY L
BONNEFOND JP
MUNNICH A
Citation: B. Gilbertdussardier et al., PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 8(1), 1996, pp. 74-76