Pages that link to "Q48795124"
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The following pages link to Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients (Q48795124):
Displaying 32 items.
- Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study (Q24679692) (← links)
- Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity (Q28539339) (← links)
- Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype (Q28544874) (← links)
- A review and current perspective on Wilson disease (Q30907824) (← links)
- Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing (Q34540834) (← links)
- Wilson's disease: an update. (Q34560533) (← links)
- Cellular copper levels determine the phenotype of the Arg 875 variant of ATP7B/Wilson disease protein (Q34750429) (← links)
- Systems biology approach to Wilson's disease (Q35020396) (← links)
- Clinical presentation and mutations in Danish patients with Wilson disease. (Q35230120) (← links)
- Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients (Q35615849) (← links)
- Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review (Q36328987) (← links)
- Mutational analysis of ATP7B in Chinese Wilson disease patients (Q37060820) (← links)
- Genetics of Wilson's disease: a clinical perspective (Q38039981) (← links)
- Clinical applications and implications of common and founder mutations in Indian subpopulations (Q38260935) (← links)
- Geographic distribution of ATP7B mutations in Wilson disease (Q38553471) (← links)
- Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis (Q40211866) (← links)
- Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease (Q40212124) (← links)
- A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient. (Q42013487) (← links)
- Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis (Q42368187) (← links)
- The genetics of Wilson disease (Q42380502) (← links)
- Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease (Q42791835) (← links)
- Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene. (Q44037648) (← links)
- Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function (Q45271036) (← links)
- 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 (Q46540633) (← links)
- Diagnostics of Wilson's disease (Q49845905) (← links)
- A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways. (Q52374420) (← links)
- Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. (Q54128040) (← links)
- Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders. (Q54313581) (← links)
- Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India (Q64040521) (← links)
- Genetic analysis of ATP7B in 102 south Indian families with Wilson disease (Q64066022) (← links)
- Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications (Q91016642) (← links)
- The Pragmatic Treatment of Wilson's Disease (Q92586521) (← links)