Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family
暂无分享,去创建一个
[1] Yan Deng,et al. Development and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele , 2019, Journal of clinical laboratory analysis.
[2] G. Dedoussis,et al. Geographic distribution of ATP7B mutations in Wilson disease , 2016, Annals of human biology.
[3] Arnab Gupta. Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis , 2015, The Indian journal of medical research.
[4] S. Kaler,et al. Wilson's disease and other neurological copper disorders , 2015, The Lancet Neurology.
[5] A. Członkowska,et al. Families with Wilson's disease in subsequent generations: Clinical and genetic analysis , 2014, Movement disorders : official journal of the Movement Disorder Society.
[6] S. Baig,et al. Development of ARMS-PCR assay for genotyping of Pro12Ala SNP of PPARG gene: a cost effective way for case–control studies of type 2 diabetes in developing countries , 2014, Molecular Biology Reports.
[7] T. Todorov,et al. Wilson Disease Mutation Pattern with Genotype‐Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations , 2013, Annals of human genetics.
[8] S. Hamid,et al. Wilson's disease: Experience at a tertiary care hospital. , 2013, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.
[9] M. Moini,et al. Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease , 2013, Hepatitis monthly.
[10] S. Atmani,et al. La maladie de Wilson chez l'enfant: à propos de 20 cas , 2013, The Pan African Medical Journal.
[11] H. Runz,et al. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease , 2010, Journal of Inherited Metabolic Disease.
[12] J. Walshe. The conquest of Wilson's disease. , 2009, Brain : a journal of neurology.
[13] M. Schilsky,et al. Diagnosis and treatment of Wilson disease: An update , 2008, Hepatology.
[14] Y. Lau,et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity , 2008, Journal of Human Genetics.
[15] S. Dey,et al. Molecular Pathogenesis of Wilson Disease Among Indians: A Perspective on Mutation Spectrum in ATP7B gene, Prevalent Defects, Clinical Heterogeneity and Implication Towards Diagnosis , 2007, Cellular and Molecular Neurobiology.
[16] V. Gismondi,et al. Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. , 2006, Clinical chemistry.
[17] A. Członkowska,et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease , 2005, Clinical genetics.
[18] S. Das,et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients , 2005, Human Genetics.
[19] M. Caggana,et al. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. , 2001, Annals of human genetics.
[20] M. Caggana,et al. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach , 2001 .
[21] L. Yu,et al. Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing. , 2000, Chinese medical journal.
[22] H. Hefter,et al. His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype , 1998, European Journal of Human Genetics.
[23] T. Nakajima,et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. , 1997, American journal of human genetics.
[24] P. Ferenci. Diagnosis of Wilson disease. , 2017, Handbook of clinical neurology.
[25] S. Atmani,et al. [Wilson's disease in the child: apropos of 20 cases]. , 2013, The Pan African medical journal.
[26] A. Naveed,et al. Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication , 2010 .
[27] O. Yoo,et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease , 1998, Human mutation.