title: Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Castoldi
authors.forename: Peter W
authors.initials: PW
authors.lastname: Collins
authors.forename: Patrick L
authors.initials: PL
authors.lastname: Williamson
authors.forename: Edouard M
authors.initials: EM
authors.lastname: Bevers
mesh_terms: D000075368:Anoctamins; D005260:Female; D006470:Hemorrhage / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D049294:Phospholipid Transfer Proteins / Q000235:genetics*
chemical_list: C555078:ANO6 protein, human; D000075368:Anoctamins; D049294:Phospholipid Transfer Proteins