Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Human mutation - 1 Aug 2006
Sol-Church Katia, Stabley Deborah L, Nicholson Linda, Gonzalez Iris L, Gripp Karen W
Abstract excerpt
Costello syndrome (CS) is a rare congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We have identified 39 CS patients harboring the p.Gly12Ser mutation (NM_005343.2:c.34 G > A), two patients with c.35G > C mutations resulting in p.Gly12Ala substitutions, and one patient carrying the p.Gly13Cys substitution (c.37G > A). We analyzed the...
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