Gene mutation analysis in a pseudoachondroplasia (PSACH) family
Abstract：Objective To perform mutation analysis in a pseudoachondroplasia (PSACH) family. Methods Mutation screening was carried out by DNA-PCR and direct sequencing the exons 8 to 19 of COMP gene. Results A C.815C > T substitution was identified in exon 8 of COMP gene in the proband and his affected father and brother. Conclusion The disease in the family is caused by mutation of COMP gene.
Keywords：pseudoachondroplasiaCOMP genemutationsequence analysis
Publication Date：2010-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 289-291 )