A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
Copyright policy ) Sima Rayat; Saeid Morovvati;
A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
AbstractOur findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.
- ISLAMIC AZAD UNIVERSITY Iran (Islamic Republic of)
- Islamic Azad University, Tehran Iran (Islamic Republic of)
- Islamic Azad University Central Tehran Branch Iran (Islamic Republic of)
- ISLAMIC AZAD UNIVERSITY Iran (Islamic Republic of)
- Science and Research Branch,Islamic Azad University Iran (Islamic Republic of)
Medicine (General), R5-920, Glutaric acidemia type 1, R, Medicine, GCDH, Case Reports, mutation, Novel
Medicine (General), R5-920, Glutaric acidemia type 1, R, Medicine, GCDH, Case Reports, mutation, Novel
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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