Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E

Open source

DOI: 10.1172/jci131297
Published: 2020 Aug 3
Container: The Journal of clinical investigation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1172/jci131297,
  title = {Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.},
  author = {Kuhny M and Forbes LR and Çakan E and Vega-Loza A and Kostiuk V and Dinesh RK and Glauzy S and Stray-Pedersen A and Pezzi AE and Hanson IC and Vargas-Hernandez A and Xu ML and Coban-Akdemir ZH and Jhangiani SN and Muzny DM and Gibbs RA and Lupski JR and Chinn IK and Schatz DG and Orange JS and Meffre E},
  year = {2020},
  journal = {The Journal of clinical investigation},
  doi = {10.1172/jci131297},
  url = {https://doi.org/10.1172/jci131297}
}

RIS

TY  - JOUR
TI  - Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
AU  - Kuhny M
AU  - Forbes LR
AU  - Çakan E
AU  - Vega-Loza A
AU  - Kostiuk V
AU  - Dinesh RK
AU  - Glauzy S
AU  - Stray-Pedersen A
AU  - Pezzi AE
AU  - Hanson IC
AU  - Vargas-Hernandez A
AU  - Xu ML
AU  - Coban-Akdemir ZH
AU  - Jhangiani SN
AU  - Muzny DM
AU  - Gibbs RA
AU  - Lupski JR
AU  - Chinn IK
AU  - Schatz DG
AU  - Orange JS
AU  - Meffre E
PY  - 2020
JO  - The Journal of clinical investigation
DO  - 10.1172/jci131297
UR  - https://doi.org/10.1172/jci131297
ER  -

APA

M, K., LR, F., E, Ç., A, V., V, K., RK, D., S, G., A, S., AE, P., IC, H., A, V., ML, X., ZH, C., SN, J., DM, M., RA, G., JR, L., IK, C., DG, S., JS, O., & E, M. (2020). Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.. The Journal of clinical investigation. https://doi.org/10.1172/jci131297

Source records

pubmed · retrieved 2026-09-25T17:17:55.916Z
europe-pmc · retrieved 2026-09-25T17:17:55.923Z