The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.

Unuakhalu R, Purcell A, Jindal I, Wu Y, Arnold M, Dominick KC, Shillington A.

Open source

DOI
10.1016/j.ymgmr.2026.101350
Published
2026-08-28
Container
Mol Genet Metab Rep
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ymgmr.2026.101350,
  title = {The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.},
  author = {Unuakhalu R and  Purcell A and  Jindal I and  Wu Y and  Arnold M and  Dominick KC and  Shillington A.},
  year = {2026},
  journal = {Mol Genet Metab Rep},
  doi = {10.1016/j.ymgmr.2026.101350},
  url = {https://doi.org/10.1016/j.ymgmr.2026.101350}
}

RIS

TY  - JOUR
TI  - The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.
AU  - Unuakhalu R
AU  -  Purcell A
AU  -  Jindal I
AU  -  Wu Y
AU  -  Arnold M
AU  -  Dominick KC
AU  -  Shillington A.
PY  - 2026
JO  - Mol Genet Metab Rep
DO  - 10.1016/j.ymgmr.2026.101350
UR  - https://doi.org/10.1016/j.ymgmr.2026.101350
ER  -

APA

R, U., A, P., I, J., Y, W., M, A., KC, D., & A., S. (2026). The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.. Mol Genet Metab Rep. https://doi.org/10.1016/j.ymgmr.2026.101350

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