Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T

Open source

DOI
10.1136/jmedgenet-2017-104632
Published
2017 Sep 18
Container
Journal of medical genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1136/jmedgenet-2017-104632,
  title = {Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.},
  author = {Tatour Y and Sanchez-Navarro I and Chervinsky E and Hakonarson H and Gawi H and Tahsin-Swafiri S and Leibu R and Lopez-Molina MI and Fernandez-Sanz G and Ayuso C and Ben-Yosef T},
  year = {2017},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2017-104632},
  url = {https://doi.org/10.1136/jmedgenet-2017-104632}
}

RIS

TY  - JOUR
TI  - Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
AU  - Tatour Y
AU  - Sanchez-Navarro I
AU  - Chervinsky E
AU  - Hakonarson H
AU  - Gawi H
AU  - Tahsin-Swafiri S
AU  - Leibu R
AU  - Lopez-Molina MI
AU  - Fernandez-Sanz G
AU  - Ayuso C
AU  - Ben-Yosef T
PY  - 2017
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2017-104632
UR  - https://doi.org/10.1136/jmedgenet-2017-104632
ER  - 

APA

Y, T., I, S., E, C., H, H., H, G., S, T., R, L., MI, L., G, F., C, A., & T, B. (2017). Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2017-104632

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