title: Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
authors.affiliation: NF1 lab, Institute of Medical Genetics, University of Medical Genetics, CF14 4XN, Cardiff, United Kingdom. jimh@cardiff.ac.uk
authors.forename: Hoi Ping
authors.initials: HP
authors.lastname: Jim
authors.forename: Meena
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003062:Codon; D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human