Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Identification of extracellular signal-regulated kinase 1/2 and p38 MAPK as regulators of human sperm motility and acrosome reaction and as predictors of poor spermatozoan quality;Almog;J Biol Chem,2008
2. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat Genet,2007
3. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009
4. The extracellular signal-regulated kinase (ERK) pathway is involved in human sperm function and modulated by the superoxide anion;de Lamirande;Mol Hum Reprod,2002
5. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene;Digilio;Am J Hum Genet,2002
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