| 1 | GLB1, GLB1A
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| Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
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| Santamaria R, Blanco M, Chabas A, Grinberg D, Vilageliu L.
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| Clin Genet 71(3):273-9. 2007
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| 2 | GLB1, GLB1A
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| beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
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| Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E.
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| Hum Mutat 15(4):354-66. 2000
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| 3 | GLB1, GLB1A
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| The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.
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| Privitera S, Prody CA, Callahan JW, Hinek A.
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| J Biol Chem 273(11):6319-26. 1998
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| 4 | GLB1, GLB1A
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| Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
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| Oshima A, et al.
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| Hum Genet 93 : 109-114. 1994
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| 5 | GLB1A
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| Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GMI gangliosidosis.
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| Chakraborty S, et al.
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| Am J Hum Genet 54 : 1004-1013. 1994
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| 6 | GLB1, GLB1A
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| Novel missense mutations in beta-galactosidase that result in GM1-gangliosidosis. (abstr)
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| Hilson WL, et al.
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| Am J Hum Genet 55 : A223. 1994
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| 7 | GLB1, GLB1A
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| GMI-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
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| Nishimoto J, et al.
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| Am J Hum Genet 49 : 566-574. 1991
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| 8 | GLB1, GLB1A
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| Generalized gangliosidosis: beta-galactosidase deficiency.
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| Okada S, et al.
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| Science 160 : 1002-1004. 1968
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