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Results for
""RNA Splice Sites""[mesh_terms]

55 Results

Searching titles within these results

Alternative Splicing and Its Roles in Plant Metabolism.

Pui Ying Lam, Lanxiang Wang, Clive Lo, Fu-Yuan Zhu

International journal of molecular sciences 2022;23(13):7355

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Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Max A Tischfield, Gustav Y Cederquist, Mohan L Gupta, Elizabeth C Engle

Current opinion in genetics & development 2011;21(3):286-94

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Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Najla Albader, Minjing Zou, Huda A BinEssa, Saba Abdi, Anwar F Al-Enezi, Brian F Meyer, Ali S Alzahrani, Yufei Shi

The Journal of clinical endocrinology and metabolism 2022;107(3):e1263-e1276

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Franziska Alfen, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, Jan Lukas

International journal of molecular sciences 2022;23(23):

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Alternative splicing of voltage-gated calcium channels: from molecular biology to disease.

Tuck Wah Soong, Heng Yu Zhang, Ping Liao

Pflugers Archiv : European journal of physiology 2009;458(3):481-7

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Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

M A Zimmermann, A Gehrig, J Oldenburg, C R Müller, S Rost

Haemophilia : the official journal of the World Federation of Hemophilia 2013;19(2):310-7

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Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?

Federica Alessandrini, Mauro Pesaresi, Alessia Bernini Di Michele, Filomena Melchionda, Valerio Onofri, Chiara Turchi

Genes 2024;15(10):

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Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations.

R Walsh, C Rutland, R Thomas, S Loughna

Cardiology 2010;115(1):49-60

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Novel Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič Meglič, Borut Peterlin, Lea Leonardis

Genes 2025;16(9):

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A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

Binghui Zeng, Ru Li, Yuelin Hu, Bin Hu, Qiang Zhao, Huijiao Liu, Ping Yuan, Yiming Wang

Gene 2016;576(1 Pt 1):176-81

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Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins.

Amanda J Hooper, Frank M van Bockxmeer, Fathimath Faiz

Critical reviews in clinical laboratory sciences 2012;49(1):1-17

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Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Lu Yang, Qianli Zhang, Shiyu Zhang, Yuehua Liu, Yaping Liu, Tao Wang

Molecular genetics & genomic medicine 2021;9(2):e1580

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Processing sites involved in intron splicing of Armillaria natural product genes.

Dirk Hoffmeister, Mathias Misiek

Mycological research 2008;112(Pt 2):216-24

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The alternative splicing of in .

Ke Zhou

Plant signaling & behavior 2020;14(10):e1651182

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Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.

Kamila Réblová, Tomáš Freiberger, Michal Kramárek, Přemysl Souček, Lucie Kajan Grodecká

Nucleic acids research 2024;52(10):5959-5974

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Results: 1 – 15 / 55

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Results for ""RNA Splice Sites""[mesh_terms]

Alternative Splicing and Its Roles in Plant Metabolism.

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Alternative splicing of voltage-gated calcium channels: from molecular biology to disease.

Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?

Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations.

Novel Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins.

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Processing sites involved in intron splicing of Armillaria natural product genes.

The alternative splicing of in .

Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.

Results for
""RNA Splice Sites""[mesh_terms]