Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
Fillat
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C
Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain.
Español
T
T
Oset
M
M
Cavieres
M
M
dal Borgo
P
P
Estivill
X
X
Volpini
V
V
D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002677:Chile; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D018698:Glutamic Acid; D014364:Tryptophan; D001120:Arginine; D000409:Alanine