Publication

Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L, GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet71(4):863-76 2002
PubMed ID: 12215968

Records Return:  (1) Show
 
Catalog IDDescription
HD50CAUHUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50