A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature ; volume:20 ; number:1 ; day:29 ; month:8 ; year:2019 ; pages:1-7 ; date:12.2019
BMC medical genetics ; 20, Heft 1 (29.8.2019), 1-7, 12.2019

Creator: Noavar, Sadaf
Behroozi, Samira
Tatarcheh, Taraneh
Parvini, Farshid
Foroutan, Majid
Fahimi, Hossein

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12881-019-0879-7

URN: urn:nbn:de:101:1-2020011120512021751267

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Noavar, Sadaf
Behroozi, Samira
Tatarcheh, Taraneh
Parvini, Farshid
Foroutan, Majid
Fahimi, Hossein
SpringerLink (Online service)

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A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

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Other Objects (12)

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P-Null Phenotype Due to a Rare Frame-Shift Mutation and with Allo-Anti-PP1Pk Causing a Severe Hemolytic Transfusion Reaction: A Case Report with Clinical Management

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

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Natural selection retains overrepresented out-of-frame stop codons against frameshift peptides in prokaryotes

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