نتایج جستجو برای: dominant mutation
تعداد نتایج: 404478 فیلتر نتایج به سال:
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....
early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...
Mutations in mitochondrial DNA (mtDNA) tRNA genes can be considered functionally recessive because they result in a clinical or biochemical phenotype only when the percentage of mutant molecules exceeds a critical threshold value, in the range of 70-90%. We report a novel mtDNA mutation that contradicts this rule, since it caused a severe multisystem disorder and respiratory chain (RC) deficien...
In general, attempts to isolate strains of Candida albicans resistant to the commonly employed antifungicide nystatin have been unsuccessful (M. L. Littman, M. A. Pisano, and R. M. Lancaser, Antibiotics Ann. 1957-58, p. 981, 1958; C. K. J. Paniker, P. V. Kurup, and K. Indira Devi, Indian J. Med. Res. 51:846, 1963). A few strains, however, have yielded variants exhibiting threeto fourfold resist...
1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. ...
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