Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
Yoshida
Rie
R
Nagai
Toshiro
T
Hasegawa
Tomonobu
T
Kinoshita
Eiichi
E
Tanaka
Toshiaki
T
Ogata
Tsutomu
T
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D018909:src Homology Domains
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases