Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
A partial deficiency of Porphobilinogen deaminase (PBGD) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and two previously reported were found in th...
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| Autores principales: | De Siervi, A., Weiss Cádiz, D.E., Parera, V.E., del C Batlle, A.M., Rossetti, M.V. |
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| Formato: | JOUR |
| Materias: | |
| Acceso en línea: | http://hdl.handle.net/20.500.12110/paper_10981004_v16_n4_p373_DeSiervi |
| Aporte de: |
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