Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
- DOI
- 10.3390/ijms19082196
- Published
- 2018-07-27
- Container
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.3390/ijms19082196,
title = {Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort},
author = {Marco Nassisi and Saddek Mohand-Saïd and Claire-Marie Dhaenens and Fiona Boyard and Vanessa Démontant and Camille Andrieu and Aline Antonio and Christel Condroyer and Marine Foussard and Cécile Méjécase and Chiara Eandi and José-Alain Sahel and Christina Zeitz and Isabelle Audo},
year = {2018},
journal = {International Journal of Molecular Sciences},
doi = {10.3390/ijms19082196},
url = {https://doi.org/10.3390/ijms19082196}
}RIS
TY - JOUR TI - Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort AU - Marco Nassisi AU - Saddek Mohand-Saïd AU - Claire-Marie Dhaenens AU - Fiona Boyard AU - Vanessa Démontant AU - Camille Andrieu AU - Aline Antonio AU - Christel Condroyer AU - Marine Foussard AU - Cécile Méjécase AU - Chiara Eandi AU - José-Alain Sahel AU - Christina Zeitz AU - Isabelle Audo PY - 2018 JO - International Journal of Molecular Sciences DO - 10.3390/ijms19082196 UR - https://doi.org/10.3390/ijms19082196 ER -
APA
Nassisi, M., Mohand-Saïd, S., Dhaenens, C., Boyard, F., Démontant, V., Andrieu, C., Antonio, A., Condroyer, C., Foussard, M., Méjécase, C., Eandi, C., Sahel, J., Zeitz, C., & Audo, I. (2018). Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. International Journal of Molecular Sciences. https://doi.org/10.3390/ijms19082196
Source records
- crossref · retrieved 2026-11-10T10:02:55.881Z