A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Conforti
F L
FL
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Muglia
M
M
Mazzei
R
R
Patitucci
A
A
Valentino
P
P
Magariello
A
A
Sprovieri
T
T
Bono
F
F
Bergmann
C
C
Gabriele
A L
AL
Peluso
G
G
Nisticò
R
R
Senderek
J
J
Quattrone
A
A
D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D007438:Introns; D007558:Italy; D008297:Male; D009154:Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D022821:RNA Splice Sites
D022821:RNA Splice Sites; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C475072:SBF2 protein, human