Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.
- DOI
- 10.1007/s10048-025-00867-y
- Published
- 2025-12-26
- Container
- Neurogenetics
- Publisher
- Not recorded
- Open access
- no
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Cite this work
BibTeX
@article{allodium:10.1007/s10048-025-00867-y,
title = {Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.},
author = {Hashmi HB and Muzammal M and Saleem A and Zubair M and Hussain A and Ali MZ and Salman MS and Khan AU and Burki NF and Abbas S and Khan MA and Windpassinger C.},
year = {2025},
journal = {Neurogenetics},
doi = {10.1007/s10048-025-00867-y},
url = {https://doi.org/10.1007/s10048-025-00867-y}
}RIS
TY - JOUR TI - Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test. AU - Hashmi HB AU - Muzammal M AU - Saleem A AU - Zubair M AU - Hussain A AU - Ali MZ AU - Salman MS AU - Khan AU AU - Burki NF AU - Abbas S AU - Khan MA AU - Windpassinger C. PY - 2025 JO - Neurogenetics DO - 10.1007/s10048-025-00867-y UR - https://doi.org/10.1007/s10048-025-00867-y ER -
APA
HB, H., M, M., A, S., M, Z., A, H., MZ, A., MS, S., AU, K., NF, B., S, A., MA, K., & C., W. (2025). Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.. Neurogenetics. https://doi.org/10.1007/s10048-025-00867-y
Source records
- europe-pmc · retrieved 2026-09-26T23:33:57.333Z