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,Identification and functional characterization of a novel missense mutation in FRMD7 responsible fo
Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder which seriously reduces child......
Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal
AIM: To study the germline mutation of hPMS2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNP......
目的对NSD1基因新发错义突变的SOTOS综合征1例患儿临床资料进行分析并结合文献进行复习,以提高临床医生对本病的认识。方法对1例5......
目的总结DMD基因新发错义突变导致的Becker型肌营养不良症一家系临床表型及基因突变特点。方法与结果采用第二代测序技术对1例25岁......
