Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

[1] Wang Z(2016)Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree Clin Chim Acta. 460 135-137

[2] Narayanan DL(2019)Spectrum of ARSA variations in Asian Indian patients with arylsulfatase A deficient metachromatic leukodystrophy J Hum Genet. 64 323-331

[3] Bruns GAP(1978)Expression of human arylsulfatase-A in man-hamster somatic cell hybrids Cytogenet Genome Res. 22 182-185

[4] Shukla P(2011)Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population J Neurol Sci. 301 38-45

[5] Grossi S(2008)Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles Hum Mutat. 29 E220-E230

[6] Gieselmann V(1989)Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site Proc Natl Acad Sci. 86 9436-9440

[7] Eng B(2003)Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) Hum Mutat 22 418-419

[8] Kreysing J(1990)Structure of the arylsulfatase A gene Eur J Biochem. 191 627-631

[9] von Figura K(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet in Med. 17 405-undefined

[10] Gieselmann V(undefined)undefined undefined undefined undefined-undefined

[1] Wang Z(2016)Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree Clin Chim Acta. 460 135-137

[2] Narayanan DL(2019)Spectrum of ARSA variations in Asian Indian patients with arylsulfatase A deficient metachromatic leukodystrophy J Hum Genet. 64 323-331

[3] Bruns GAP(1978)Expression of human arylsulfatase-A in man-hamster somatic cell hybrids Cytogenet Genome Res. 22 182-185

[4] Shukla P(2011)Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population J Neurol Sci. 301 38-45

[5] Grossi S(2008)Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles Hum Mutat. 29 E220-E230

[6] Gieselmann V(1989)Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site Proc Natl Acad Sci. 86 9436-9440

[7] Eng B(2003)Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) Hum Mutat 22 418-419

[8] Kreysing J(1990)Structure of the arylsulfatase A gene Eur J Biochem. 191 627-631

[9] von Figura K(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet in Med. 17 405-undefined

[10] Gieselmann V(undefined)undefined undefined undefined undefined-undefined