Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.-论文-万方医学网

第一作者： Madiha,Kanwal

第一单位： Human Genetics Program, Department of Animal Sciences, Quaid-i-Azam University Islamabad, 45320 Islamabad, Pakistan.

作者： Madiha,Kanwal ^[1] ; Saadia,Alyas ^[1] ; Muhammad,Afzal ^[1] ; Atika,Mansoor ^[2] ; Rashda,Abbasi ^[2] ; Flora,Tassone ^[3] ; Sajid,Malik ^[1] ; Kehkashan,Mazhar ^[2]

作者单位： Human Genetics Program, Department of Animal Sciences, Quaid-i-Azam University Islamabad, 45320 Islamabad, Pakistan. ^[1] Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. ^[2] M.I.N.D. Institute, University of California Davis, Davis, California, United States of America; Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, California, United States of America. ^[3]

主题词青少年(Adolescent);成年人(Adult);印迹法, DNA(Blotting, Southern);儿童(Child);儿童, 学龄前(Child, Preschool);染色体, 人, X(Chromosomes, Human, X);横断面研究(Cross-Sectional Studies);早期诊断(Early Diagnosis);女(雌)性(Female);脆性X智力低下蛋白质(Fragile X Mental Retardation Protein);脆性X综合征(Fragile X Syndrome);人类(Humans);智力测验(Intelligence Tests);男(雄)性(Male);巴基斯坦(Pakistan);系谱(Pedigree);聚合酶链反应(Polymerase Chain Reaction);患病率(Prevalence);三核苷酸重复(Trinucleotide Repeats);青年人(Young Adult)

DOI 10.1371/journal.pone.0122213

PMID 25875842

发布时间 2019-02-23

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Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.

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Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.

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PloS one

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