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Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16.
Ann Hum Genet. 2018.
PMID: 30014477
[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].
Carrasco Salas P, Palma Milla C, López Montiel J, Benito C, Franco Freire S, López Siles J.
Carrasco Salas P, et al. Among authors: lopez montiel j.
Med Clin (Barc). 2016 Feb 19;146(4):163-6. doi: 10.1016/j.medcli.2015.10.015. Epub 2015 Dec 10.
Med Clin (Barc). 2016.
PMID: 26683077
Spanish.
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Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy.
Vitoria I, Dalmau J, Ribes C, Rausell D, García AM, López-Montiel J, Rubio V.
Vitoria I, et al. Among authors: lopez montiel j.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):181-3. doi: 10.1016/j.ymgme.2013.06.011. Epub 2013 Jun 21.
Mol Genet Metab. 2013.
PMID: 23835251
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