Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
- DOI
- 10.1186/1750-1172-6-40
- Published
- 2011 Jun 16
- Container
- Orphanet journal of rare diseases
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1186/1750-1172-6-40,
title = {Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.},
author = {Grossi S and Regis S and Biancheri R and Mort M and Lualdi S and Bertini E and Uziel G and Boespflug-Tanguy O and Simonati A and Corsolini F and Demir E and Marchiani V and Percesepe A and Stanzial F and Rossi A and Vaurs-Barrière C and Cooper DN and Filocamo M},
year = {2011},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/1750-1172-6-40},
url = {https://doi.org/10.1186/1750-1172-6-40}
}RIS
TY - JOUR TI - Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. AU - Grossi S AU - Regis S AU - Biancheri R AU - Mort M AU - Lualdi S AU - Bertini E AU - Uziel G AU - Boespflug-Tanguy O AU - Simonati A AU - Corsolini F AU - Demir E AU - Marchiani V AU - Percesepe A AU - Stanzial F AU - Rossi A AU - Vaurs-Barrière C AU - Cooper DN AU - Filocamo M PY - 2011 JO - Orphanet journal of rare diseases DO - 10.1186/1750-1172-6-40 UR - https://doi.org/10.1186/1750-1172-6-40 ER -
APA
S, G., S, R., R, B., M, M., S, L., E, B., G, U., O, B., A, S., F, C., E, D., V, M., A, P., F, S., A, R., C, V., DN, C., & M, F. (2011). Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-6-40