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Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 7/8, p. 795, doi. 10.1515/jpem-2013-0489
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- Publication type:
- Article