Nuclear matrix is a delicate proteineous network in eukaryote nucleus, and its functional diversity is becoming increasingly apparent.It is generally acknowledged that nuclear matrix,being a morphological and biochemi...Nuclear matrix is a delicate proteineous network in eukaryote nucleus, and its functional diversity is becoming increasingly apparent.It is generally acknowledged that nuclear matrix,being a morphological and biochemical complex molecular展开更多
Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined.cases, mutations have been identified in the gene encoding c...Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined.cases, mutations have been identified in the gene encoding cartilage algometric matrix protein ( COMP). Methods Five patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members. Results We have identified a novel mutation in axon 14 of COMP gene in the family. Conclusions This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.展开更多
文摘Nuclear matrix is a delicate proteineous network in eukaryote nucleus, and its functional diversity is becoming increasingly apparent.It is generally acknowledged that nuclear matrix,being a morphological and biochemical complex molecular
文摘Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined.cases, mutations have been identified in the gene encoding cartilage algometric matrix protein ( COMP). Methods Five patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members. Results We have identified a novel mutation in axon 14 of COMP gene in the family. Conclusions This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.