Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?-Reference-Cited by-同舟云学术

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

Published:2014-03 Issue:3 Volume:111 Page:307-308
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wenger David A.,Luzi Paola,Rafi Mohammad A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference9 articles.

1. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy;Chen;Hum. Mol. Genet.,1993

2. Krabbe disease (globoid cell leukodystrophy);Wenger,2013

3. Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin;Kleijer;J. Inherit. Metab. Dis.,1997

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

5. Newborn screening for Krabbe disease: the New York State model;Duffner;Pediatr. Neurol.,2009

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