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Mutation analysis of PTPN11 in Noonan syndrome by WAVE.

Methods in molecular medicine, 2006
The chapter details the methodology for polymerase chain reaction amplification and WAVE denaturing high-performance liquid chromatography (DHPLC) analysis for all coding exons for the gene PTPNI1, which is mutated in approx 50% of cases of Noonan Syndrome.
Navaratnam, Elanko, Steve, Jeffery
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[Mutation analysis of PTPN11 gene in Noonan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
To investigate the mutations in protein tyrosine phosphatase, nonreceptor-type 11 (PTPN11) gene in patients with Noonan syndrome (NS).Three sporadic patients with NS were studied. Genomic DNAs were extracted from peripheral blood leukocytes. All 15 coding exons and their flanking intronic boundaries of the PTPN11 gene were amplified by polymerase chain
Tao, Yang +5 more
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PTPN11 Mutation Clonal Hierarchy in Acute Myeloid Leukemia

Summary Mutations in protein tyrosine phosphatase non-receptor type 11 ( PTPN11 ) have been considered late acquired mutations in acute myeloid leukemia (AML) development. To interrogate the ontogeny of PTPN11 mutations, we utilized single-cell ...
Sydney, Fobare +28 more
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PTPN11 Mutation, A Heartbreaking Revelation