Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

Item
http://www.wikidata.org/entity/Q28138344
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013.Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex.Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex.Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.Novel and de novo mutations in pediatric refractory epilepsy
P2860

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

Item
http://www.wikidata.org/entity/Q28138344
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
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1999年の論文
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1999年論文
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1999年論文
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1999年論文
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1999年論文
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1999年論文
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1999年论文
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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P1433
P1476
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Mutational analysis of TSC1 an ...... ith tuberous sclerosis complex
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P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P698