[Clinical and genetic analysis of a patient with Ataxia and vitamin E deficiency due to homozygous variant of TTPA gene].
The homozygous c.2T>A (p.0?) variant of the TTPA gene probably underlie the AVED in the proband. Above discovery has enriched the mutational spectrum of AVED and provided a basis for the diagnosis, genetic counseling, and assisted reproductive strategies for this family.
Authors
- Xiang Cheng (ORCID: https://orcid.org/0000-0002-6287-3128)
- Yuanzhen Zhang (ORCID: https://orcid.org/0000-0003-0437-423X)
- Zhidan Hong
- Ling Ma (ORCID: https://orcid.org/0000-0002-7212-5107)
- Mei Wang (ORCID: https://orcid.org/0000-0003-0379-6633)
- Ming Zhang (ORCID: https://orcid.org/0000-0002-1800-9041)
Institutions
- Wuhan University (CN)
- Zhongnan Hospital of Wuhan University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240103-00006
- Primary Topic
- Retinoids in leukemia and cellular processes
- Type
- article
- Field-Weighted Citation Impact
- 0.00