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Journal
Mutation research, ISSN 0027-5107, 1964
Journal
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, p. 19
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 03/2019, Volume 90, Issue 3, pp. e40 - e41
ObjectivesHereditary Transthyretin (ATTR) amyloidosis is a genetic disorder where insoluble amyloid fibrils deposit in heart, nerves and various... 
Mutation
Journal Article
Nature genetics, ISSN 1061-4036, 11/2018, Volume 50, Issue 11, pp. 1615 - 1615
In the version of this article published, the P values for the enrichment of single mutation categories were inadvertently not corrected for multiple testing.... 
Mutation
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 10/2018, Volume 72, Issue 16, p. C170
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A40 - A40
BackgroundMutations in the protein gelsolin result in hereditary systemic amyloidosis, characterised by onset of corneal lattice dystrophy in the third decade,... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A47 - A47
A blood-based biomarker able to track early neurodegeneration in Alzheimer’s disease would be valuable. Serum neurofilament-light (NfL) is elevated in familial... 
Mutation
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 09/2018, Volume 89, Issue Suppl 1, p. A41
Background Huntington’s disease (HD) prevalence is variable and depends on genetic background. However, culture, environment and other, yet unknown, biological... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A149
Background Ureaplasma spp. are known to reside in the urogenital tract in adults and newborn children. In most cases, Ureaplasma spp. colonization is not... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A273
BackgroundRates of macrolide resistance (MR) in Mycoplasma genitalium (Mgen) globally remain alarmingly high (30-100%) and quinolone resistance (QR) is now an... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A298
BackgroundCurrent UK guidelines for managing Neisseria gonorrhoeae (NG) infection include ciprofloxacin use if antimicrobial susceptibility is indicated, but... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A269
BackgroundMacrolide-resistant strains of Mycoplasma genitalium are an increasing problem throughout the world, and the implementation of a rapid and sensitive... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A275
Background Mycoplasma genitalium (Mgent) is a sexually transmitted bacteria, associated with cervicitis and pelvic inflammatory disease in women and... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A265
BackgroundThe Aptima MG assay (Hologic Inc.) detects Mycoplasma genitalium (MG). SpeeDx Resistance Plus MG (SpeeDx Pty Ltd) simultaneously determines whether... 
Mutation
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 07/2019, Volume 95, Issue Suppl 1, p. A289
BackgroundPhenotypic fluoroquinolone resistance was first reported in Western Kenya in 2009 and later in Coastal Kenya and Nairobi. Until recently gonococcal... 
Mutation
Journal Article
Thorax, ISSN 0040-6376, 12/2017, Volume 72, Issue Suppl 3, p. A73
RationaleThere is increasing evidence of a link between abnormalities in the myeloid cell lineage and pulmonary arterial hypertension (PAH). Heterozygous... 
Mutation
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 02/2018, Volume 186, p. 170
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A59 - A59
A particular characteristic of Neurofibromatosis type 2 (NF2) is increased prevalence of mosaicism in the first affected generation. We describe the case of a... 
Mutation
Journal Article
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