Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

Molecular Genetics and Metabolism - Tập 111 Số 3 - Trang 307-308 - 2014
David A. Wenger1, Paola Luzi1, Mohammad A. Rafi1
1Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA.

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Tài liệu tham khảo

Chen, 1993, Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy, Hum. Mol. Genet., 2, 1841, 10.1093/hmg/2.11.1841

Wenger, 2013, Krabbe disease (globoid cell leukodystrophy)

Kleijer, 1997, Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin, J. Inherit. Metab. Dis., 20, 587, 10.1023/A:1005315311165

Rafi, 1995, A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease, Hum. Mol. Genet., 4, 1285, 10.1093/hmg/4.8.1285

Duffner, 2009, Newborn screening for Krabbe disease: the New York State model, Pediatr. Neurol., 40, 245, 10.1016/j.pediatrneurol.2008.11.010

Wenger, 1974, An improved method for the identification of patients and carriers of Krabbe's disease, Clin. Chim. Acta, 56, 199, 10.1016/0009-8981(74)90228-9

Furuya, 1997, Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients, Hum. Genet., 100, 450, 10.1007/s004390050532

Lissens, 2007, A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region, Hum. Mutat., 28, 742, 10.1002/humu.9500

Luzi, 1996, Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease, Ann. Neurol., 40, 116, 10.1002/ana.410400119