[Missense mutations in the BCS1L gene in Bjornstad syndrome].
Dereure
O
O
Service de dermatologie, hôpital de Saint-Eloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. o-dereure@chu-montpellier.fr
D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III