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Two novel and one recurrentPTPN11 mutations in LEOPARD syndrome

โœ Scribed by Yoshida, Rie ;Nagai, Toshiro ;Hasegawa, Tomonobu ;Kinoshita, Eiichi ;Tanaka, Toshiaki ;Ogata, Tsutomu


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
80 KB
Volume
130A
Category
Article
ISSN
0148-7299

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A Novel PTPN11 mutation in LEOPARD syndr
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PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met. In this work we describe the third PTPN11 mutation that has been found in

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