Search Results - "stop codon"

Suggested Topics within your search.
Refine Results
  1. 21
    Cover Image

    Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report by Eun Jin Cho, Yong Chul Kim, Jin Ho Hwang, Hajung Lee, Sung Sup Park, So Yeon Kim, Suhnggwon Kim, Ho Jun Chin

    Published 2012
    Connect to this object online.
    Book

    Save to List
    Saved in:
  2. 22
    Cover Image

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation by Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet

    Published 2012
    Connect to this object online.
    Book

    Save to List
    Saved in:
  3. 23
    Cover Image

    Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability by Chunyan Jin, Hua Qian, Tianhui Xu, Jiao Chen, Xuefang Li, Zhiping Gu

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  4. 24
    Cover Image

    Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene by Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  5. 25
    Cover Image

    Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome by Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  6. 26
    Cover Image

    Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments by L. A. Osipova, L. M. Kuzenkova, L. S. Namazova-Baranova, A. K. Gevorkyan, T. V. Podkletnova, N. D. Vashakmadze

    Published 2015
    Connect to this object online.
    Book

    Save to List
    Saved in:
  7. 27
    Cover Image

    Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management by L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  8. 28
    Cover Image

    LCR based quick detection of hotspot G1896A mutation in patients with different spectrum of hepatitis B by Abdul Malik, Fahad Aldakheel, Syed Rabbani, Meshal Alshehri, Anis Ahmad Chaudhary, Musaed Alkholief, Aws Alshamsan

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  9. 29
    Cover Image

    Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome by Abolfazl Heidari, Ali Homaei, Fatemeh Saffari

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  10. 30
    Cover Image

    A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease by Yi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, Ju-Li Lin, Chih-Kuang Chuang, Jen-Daw Tsai, Nan-Chang Chiu, Hsiang-Yu Lin, Shuan-Pei Lin

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  11. 31
    Cover Image

    The drive to generate multiple forms of oncogenic cyclin D1 transcripts in mantle cell lymphoma by Chioniso Patience Masamha

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  12. 32
    Cover Image

    A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report by Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  13. 33
    Cover Image

    Mutations in <it>FKBP10 </it>can cause a severe form of isolated Osteogenesis imperfecta by Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas

    Published 2011
    Connect to this object online.
    Book

    Save to List
    Saved in:
  14. 34
    Cover Image

    Clinical and genetic aspects in the Ehlers Danlos syndrome by Elena Silvia Shelby, Madalina Cristina Leanca, Serban Hamei, Liliana Padure, Andrada Mirea

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  15. 35
    Cover Image

    A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen by Ashlee J. Conway, Fiona C. Brown, Robert O. Fullinfaw, Benjamin T. Kile, Stephen M. Jane, David J. Curtis

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  16. 36
    Cover Image

    <it>EDAR </it>mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families by Schmitt-Egenolf Marcus, Lejon Kristina, Stecksén-Blicks Christina, Lind Lisbet K

    Published 2006
    Connect to this object online.
    Book

    Save to List
    Saved in:
  17. 37
    Cover Image

    Exploring Roles of the Polysaccharide Capsule in Pathogenesis of Hypervirulent <i>Acinetobacter baumannii</i> Clinical Isolate Lac-4 by Elisabet Bjånes, Truman Koh, Tariq Qayum, Raymond Zurich, Sinead McCabe, Kegan Hampel, Lisa Cartwright, Victor Nizet

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  18. 38
    Cover Image

    Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the <it>ECM1 </it>gene in a Pakistani family by Naeem Muhammad, Qamar Reem, Ajmal Muhammad, Latif Amir, Nasir Muhammad, Hameed Abdul

    Published 2011
    Connect to this object online.
    Book

    Save to List
    Saved in:
  19. 39
    Cover Image

    A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects by Hao Huang, Hao Huang, Hao Huang, Jieyuan Jin, Jieyuan Jin, Liping Wu, Huifen Wu, Huichun Pi, Yi Dong, Yi Dong, Rong Xiang, Rong Xiang

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  20. 40
    Cover Image

    Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia by Zhengrong Wang, Zhengrong Wang, Yuqing Xu, Yuqing Xu, Yixi Sun, Yixi Sun, Shuang Wang, Shuang Wang, Minyue Dong, Minyue Dong

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:

Search Tools: