Analysis of 65 tuberous sclerosis complex (TSC) patients byTSC2DGGE,TSC1/TSC2MLPA, andTSC1long-range PCR sequencing, and report of 28 novel mutations-Reference-Cited by-同舟云学术

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Analysis of 65 tuberous sclerosis complex (TSC) patients byTSC2DGGE,TSC1/TSC2MLPA, andTSC1long-range PCR sequencing, and report of 28 novel mutations

Published:2005-10 Issue:4 Volume:26 Page:374-383
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rendtorff Nanna D.,Bjerregaard Bolette,Frödin Morten,Kjaergaard Susanne,Hove Hanne,Skovby Flemming,Brøndum-Nielsen Karen,Schwartz Marianne,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids;Abrams;Methods Enzymol,1992

2. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients;Au;Am J Hum Genet,1998

3. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis;Beauchamp;Hum Mutat,1998

4. Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations;Benit;Hum Mutat,1999

5. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat Rev Genet,2002

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2. Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex;International Journal of Molecular Sciences;2022-09-22

3. Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments;Frontiers in Medicine;2022-08-29

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