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
โฆ LIBER โฆ
Two novel and one recurrentPTPN11 mutations in LEOPARD syndrome
โ 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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