Results 181 to 190 of about 49,802 (297)

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype [PDF]

, 2001
Vittorio Sossi, A. De Giuli, Tiziana Vitali, Francesco Danilo Tiziano, Massimiliano Mirabella, A. Antonelli, Giovanni Neri, Christina Brahe   +7 more
openalex   +1 more source

Exon-Skipping [PDF]

, 2018
openaire   +1 more source

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae

, 1998
Sergej Feshchenko, Jürgen Brinckmann, Hartwig Lehmann, Hans-Georg Koch, Peter Müller, Sebastian Kügler   +5 more
openalex   +1 more source

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I [PDF]

, 2002
Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, Helga V. Toriello, Lynne T. Smith, Peter H. Byers, Daniel S. Greenspan   +7 more
openalex   +1 more source

Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin. [PDF]

Biomol Ther (Seoul), 2023
Kim JY, Han SY, Sung K, Seo JY, Myung CH, Jo CS, Yoon JH, Park JY, Hwang JS.   +8 more
europepmc   +1 more source

Exon Skipping in Cardiac Troponin T of Turkeys with Inherited Dilated Cardiomyopathy [PDF]

, 2002
Brandon J. Biesiadecki, Jian‐Ping Jin
openalex   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration. [PDF]

Invest Ophthalmol Vis Sci
Li W, Li Y, Zhou Y, Liu Y, Liu H, Wei X, Sun Z, Han X, Zou X, Li H, Sui R.   +10 more
europepmc   +1 more source

CRISPR-Cas9-mediated exon skipping as a cardioprotective strategy in Duchenne muscular dystrophy. [PDF]

Mol Ther Methods Clin Dev, 2023
Wilton-Clark H, Yokota T.
europepmc   +1 more source

Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping [PDF]

, 2002
Timothy Hefferon, Fiona Broackes-Carter, Ann Harris, Garry R. Cutting   +3 more
openalex   +1 more source