Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Jim
Hoi Ping
HP
NF1 lab, Institute of Medical Genetics, University of Wales College of Medicine, CF14 4XN, Cardiff, United Kingdom. jimh@cardiff.ac.uk
Upadhyaya
Meena
M
D048868:Adaptor Proteins, Signal Transducing; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
D048868:Adaptor Proteins, Signal Transducing; D003062:Codon; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human