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Page 1
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Int J Mol Sci. 2023 Apr 21;24(8):7635. doi: 10.3390/ijms24087635.
Int J Mol Sci. 2023.
PMID: 37108800
Free PMC article.
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González C, Rosas-Alonso R, Rodríguez-Antolín C, García-Guede A, Ibáñez de Caceres I, Sanguino J, Pascual SI, Esteban I, Pozo AD, Mori MÁ, Torres RJ, Prior C.
Gómez-González C, et al. Among authors: sanguino j.
Eur J Med Genet. 2021 Apr;64(4):104170. doi: 10.1016/j.ejmg.2021.104170. Epub 2021 Feb 19.
Eur J Med Genet. 2021.
PMID: 33618039
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