Saatavuustiedot: Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the...

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Bibliografiset tiedot
Päätekijät:	Manshadi, Masoumeh Dehghan, Kamalidehghan, Behnam, Aryani, Omid, Khalili, Elham, Dadgar, Sepideh, Tondar, Mahdi, Ahmadipour, Fatemeh, Goh, Yong Meng, Houshmand, Massoud
Aineistotyyppi:	Artikkeli
Kieli:	English
Julkaistu:	Dove Medical Press 2017
Linkit:	http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf
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http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

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