Title: | Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy |
Journal : | American journal of human genetics (The), 67, 5 |
Authors: | Valnot I ; Osmond S ; Gigarel N ; Mehaye B ; Amiel J ; Cormier-Daire V ; Munnich A ; Bonnefont JP ; Rustin P ; Rotig A |
Material Type: | Article |
Publication Date: | 2000 |
Size: | p. 1104-1109 |
Languages: | English |
Keywords : | biopsies ; chromosome 17 ; complex 4 of the respiratory chain ; COX10 gene ; encephalopathies ; enzymology ; family trees ; genetic mutations ; liver ; mitochondrial genome ; molecular genetics ; neonatal diseases ; SCO1 gene ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=11013136&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |