# A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-novel-mutation-in-the-slc25a15-gene-in-a-turkish-patient-with-hhh-syndrome/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Nagehan Ersoy Tunalı,C Marobbio,Necip Ozan Tiryakioğlu,Giuseppe Punzi,Seha Saygılı,Hasan Önal,Ferdinando Palmieri |
| Citations | 27 |
| DOI | 10.1016/j.ymgme.2014.03.002 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://www.sciencedirect.com/science/article/pii/S1096719214000900/pdf |
| OpenAlex ID | https://openalex.org/W2035569811 |
| PMID | 24721342 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Seha Saygılı](https://scholariq.org/researchers/seha-sayg-l/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Folate and B Vitamins Research](https://scholariq.org/topics/folate-and-b-vitamins-research/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.