A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
Osawa
R
R
Departments of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. r-osawa@fm2.seikyou.ne.jp
Akiyama
M
M
Yamanaka
Y
Y
Ujiie
H
H
Nemoto-Hasebe
I
I
Takeda
A
A
Yanagi
T
T
Shimizu
H
H
D002648:Child; D005091:Exons / Q000235:genetics; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11