STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M

Open source

DOI: 10.1136/jmg.2009.075341
Published: 2010 Sep
Container: Journal of medical genetics
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
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. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1136/jmg.2009.075341,
  title = {STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.},
  author = {Cetica V and Santoro A and Gilmour KC and Sieni E and Beutel K and Pende D and Marcenaro S and Koch F and Grieve S and Wheeler R and Zhao F and zur Stadt U and Griffiths GM and Aricò M},
  year = {2010},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmg.2009.075341},
  url = {https://doi.org/10.1136/jmg.2009.075341}
}

RIS

TY  - JOUR
TI  - STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
AU  - Cetica V
AU  - Santoro A
AU  - Gilmour KC
AU  - Sieni E
AU  - Beutel K
AU  - Pende D
AU  - Marcenaro S
AU  - Koch F
AU  - Grieve S
AU  - Wheeler R
AU  - Zhao F
AU  - zur Stadt U
AU  - Griffiths GM
AU  - Aricò M
PY  - 2010
JO  - Journal of medical genetics
DO  - 10.1136/jmg.2009.075341
UR  - https://doi.org/10.1136/jmg.2009.075341
ER  -

APA

V, C., A, S., KC, G., E, S., K, B., D, P., S, M., F, K., S, G., R, W., F, Z., U, Z. S., GM, G., & M, A. (2010). STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.. Journal of medical genetics. https://doi.org/10.1136/jmg.2009.075341

Source records

pubmed · retrieved 2026-09-25T04:11:37.989Z