换一批
换一批Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.
第一作者：
Abdul,Aziz
第一单位：
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
作者：
关键词
AERBLASTBasic Local Alignment Search ToolDLX5Deletion and duplication mutationsEDTAEthylene diamine tetra acetic acidFZDLGALamarckian genetic algorithmPCRPDBPMDBPolymerase Chain ReactionProtein Data BankProtein Model DatabaseRMSDRT-PCRReverse transcription polymerase chain reactionRoot-mean-square deviationSHFMSHFM6Split hand foot malformationTP63WNT10BWNT10B geneapical ectodermal ridgebase pairbpcDNAcomplementary DNAdeldeletiondistal-less homeobox 5dupduplicationframeshiftfrizzledfstumor protein p63wingless-type MMTV integration site family, member 10B
主题词
结合部位(Binding Sites);近亲(Consanguinity);女(雌)性(Female);基因, 隐性(Genes, Recessive);基因连锁(Genetic Linkage);基因型(Genotype);手畸形, 先天性(Hand Deformities, Congenital);纯合子(Homozygote);人类(Humans);肢畸形, 先天性(Limb Deformities, Congenital);男(雄)性(Male);表型(Phenotype);原癌基因蛋白质类(Proto-Oncogene Proteins);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion);Wnt蛋白质类(Wnt Proteins)
DOI
10.1016/j.gene.2013.10.047
PMID
24211389
发布时间
2022-03-17
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Gene
265-71页
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