Výsledky vyhledávání - "Campistol, Jaime"

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Autor: Mendes, Marisa I., Smith, Desiree E. C., Pop, Ana, Lennertz, Pascal, Ojeda, Matilde R. Fernandez, Kanhai, Warsha A., van Dooren, Silvy J. M., Anikster, Yair, Baric, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T., Vianey-Saban, Christine, Williams, Monique, Salomons, Gajja S.

Publikováno v: Human Mutation, 38, 5, pp. 524-531
HUMAN MUTATION
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation
Human Mutation, Wiley, 2017, 38 (5), pp.524-531. ⟨10.1002/humu.23181⟩
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 38, 524-531
Human Mutation, 38(5), 524-531. Wiley-Liss Inc.
Mendes, M I, Smith, D E C, Pop, A, Lennertz, P, Fernandez Ojeda, M R, Kanhai, W A, van Dooren, S J M, Anikster, Y, Barić, I, Boelen, C, Campistol, J, de Boer, L, Kariminejad, A, Kayserili, H, Roubertie, A, Verbruggen, K T, Vianey-Saban, C, Williams, M & Salomons, G S 2017, ' Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity ', Human Mutation, vol. 38, no. 5, pp. 524-531 . https://doi.org/10.1002/humu.23181
Human Mutation, 38(5), 524-531. Wiley

Contains fulltext : 182871.pdf (Publisher’s version ) (Open Access) We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::109084213a0a87d3f4e3cca2169a997c
https://hdl.handle.net/2066/182871

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