Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Flintoff
K J
KJ
DNA Laboratory, Clinical Genetics Department, St. James's University Hospital, Leeds, UK. kim.flintoff@leedsth.nhs.uk
Boute-Benejean
Odile
O
D018797:Cell Cycle Proteins; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics*; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins