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文章名     作者     期刊名     摘要     卷     期         如果没有找到您所需要的文献，请点击 ——此处申请     共21条记录   Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD) [作者：Wang, YP; Qi, ML; Li, TT; Zhao, YJ,期刊：Gene, 页码：112-115 , 文章类型： Article，,卷期：2012年498-1] Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that is caused by mutations in the subunits of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. BCKD is a mitochondrial complex... Association between TPO gene polymorphisms and Anti-TPO level in Tehranian population: TLGS [作者：Faam, B; Daneshpour, MS; Azizi, F; Salehi, M; Hedayati, M,期刊：Gene, 页码：116-119 , 文章类型： Article，,卷期：2012年498-1] Introduction: Thyroid peroxidase (TPO) gene variations are one cause of thyroid autoimmune diseases. The aim of this study was to examine the association between the T1936C, T2229C and A2257C polymorphisms of the TPO gen... Molecular cloning and expression of the IL-10 gene from guinea pigs [作者：Dirisala, VR; Jeevan, A; Bix, G; Yoshimura, T; McMurray, DN,期刊：Gene, 页码：120-127 , 文章类型： Article，,卷期：2012年498-1] The Guinea pig (Cavia porcellus) is one of the most relevant small animals for modeling human tuberculosis (TB) in terms of susceptibility to low dose aerosol infection, the organization of granulomas, extrapulmonary dis... De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features [作者：Vundinti, BR; Korgaonkar, S; Ghosh, K,期刊：Gene, 页码：128-130 , 文章类型： Article，,卷期：2012年498-1] Small supernumerary marker chromosomes (sSMCs) are a heterogeneous group with regards to their clinical effects as well as their chromosomal origin and their shape. The sSMCs are associated with mental retardation and dy... A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy [作者：Park, JA; Jun, KR; Han, SH; Kim, GH; Yoo, HW; Hur, YJ,期刊：Gene, 页码：131-133 , 文章类型： Article，,卷期：2012年498-1] X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China an...