Results 101 to 110 of about 4,059 (184)
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members [PDF]
Lei Zhuang +4 more
openalex +1 more source
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas [PDF]
Daichi Ishimaru +10 more
openalex +1 more source
EXT1 and EXT2 regulate chondrogenesis by modulation of WNT signaling [PDF]
Silvia Monteagudo, Rik Lories, X. Wang
openaire +2 more sources
An 8q24.11q24.13 Microdeletion Encompassing EXT1 in a Boy with Autistic Spectrum Disorder, Intellectual Disability, and Multiple Hereditary Exostoses [PDF]
Min Jeong Kim +3 more
openalex +1 more source
【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人,提取基因组DNA,对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异,并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs):3个在编码区,为同义突变,11个在内含子区,1个在3 ...
doaj
Distinction Between Proliferative Lupus Nephritis and Membranous Lupus Nephritis Based on Inflammation, NETosis, and Glomerular Exostosin. [PDF]
Wada Y +8 more
europepmc +1 more source

