N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
genes
References
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Braulke T, Pohl S, Storch S. Molecular analysis of theGlcNac-1-phosphotransferase. J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi:10.1007/s10545-008-0862-5.
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, FriezMJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736.
Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) andmucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused bymutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.Am J Hum Genet. 2006 Mar;78(3):451-63.
Leroy JG, Cathey SS, Friez MJ. GNPTAB-Related Disorders. 2008 Aug 26 [updated 2019 Aug 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1828/
Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Mucolipidosis II andIII alpha/beta: mutation analysis of 40 Japanese patients showedgenotype-phenotype correlation. J Hum Genet. 2009 Mar;54(3):145-51. doi:10.1038/jhg.2009.3.
Plante M, Claveau S, Lepage P, Lavoie EM, Brunet S, Roquis D, Morin C, Vézina H, Laprise C. Mucolipidosis II: a single causal mutation in theN-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadianfounder population. Clin Genet. 2008 Mar;73(3):236-44. doi:10.1111/j.1399-0004.2007.00954.x.
Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, KornfeldS, Steinmann B. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferasegene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1;132A(4):369-75.
Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Missensemutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A.2005 Sep 1;137A(3):235-40.
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/betaGlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12.
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