Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.
Espinós
Carmen
C
CIBER de Enfermedades Raras (CIBERER), Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, c/ Jaume Roig, 11, 46010 Valencia, Spain. cespinos@ibv.csic.es
Martínez-Rubio
Dolores
D
Millán
José M
JM
Palau
Francesc
F
Espinós
Carmen
C
D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D003062:Codon / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D020125:Mutation, Missense; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
D003062:Codon; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human; D004262:DNA Restriction Enzymes