Related references
Note: Only part of the references are listed.Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
M Bertelli et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2006)
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations
B Anar et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2006)
Novel mutations associated with metachromatic leukodystrophy:: Phenotype and expression studies in nine Czech and Slovak patients
L Berná et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
MB Coulter-Mackie et al.
MOLECULAR GENETICS AND METABOLISM (2003)
A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase at-subunit gene affects splicing
HA Özkara et al.
BRAIN & DEVELOPMENT (2003)
Croatian population data for arylsulfatase A pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome
SK Bognar et al.
ARCHIVES OF MEDICAL RESEARCH (2002)
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
S Regis et al.
HUMAN GENETICS (2002)