Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level

Biochem Genet. 2009 Dec;47(11-12):868-72. doi: 10.1007/s10528-009-9286-7.

Authors

Huiwen Zhang¹, Jun Ye, Xuefan Gu

Affiliation

¹ Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.

PMID: 19669404
DOI: 10.1007/s10528-009-9286-7

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alkaline Phosphatase / blood*
Child
China
Costello Syndrome / blood*
Costello Syndrome / enzymology
Costello Syndrome / genetics*
Female
Humans
Mutation
Proto-Oncogene Proteins p21(ras) / genetics*

Substances

Alkaline Phosphatase
HRAS protein, human
Proto-Oncogene Proteins p21(ras)