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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP. Keulemans JL, et al. Among authors: chabas a. J Med Genet. 1996 Jun;33(6):458-64. doi: 10.1136/jmg.33.6.458. J Med Genet. 1996. PMID: 8782044 Free PMC article.
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G. Schollen E, et al. Among authors: chabas a. Mol Genet Metab. 2007 Apr;90(4):408-13. doi: 10.1016/j.ymgme.2007.01.003. Epub 2007 Feb 16. Mol Genet Metab. 2007. PMID: 17307006
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Among authors: chabas a. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: chabas a. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305
114 results