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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1991 | 1 |
1998 | 1 |
2005 | 1 |
2007 | 1 |
2008 | 1 |
2009 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
Am J Hum Genet. 1991 Dec;49(6):1340-50.
Am J Hum Genet. 1991.
PMID: 1684088
Free PMC article.
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A.
Ługowska A, et al.
Clin Genet. 2009 Jan;75(1):57-64. doi: 10.1111/j.1399-0004.2008.01108.x. Epub 2008 Nov 17.
Clin Genet. 2009.
PMID: 19021637
Item in Clipboard
Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
Ługowska A, Szymańska K, Kmiec T, Tarczyńska I, Czartoryska B, Tylki-Szymańska A, Jurkiewicz E.
Ługowska A, et al.
J Appl Genet. 2005;46(3):337-9.
J Appl Genet. 2005.
PMID: 16110195
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Buratti E, et al.
Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18.
Nucleic Acids Res. 2007.
PMID: 17576681
Free PMC article.
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Statistical features of human exons and their flanking regions.
Zhang MQ.
Zhang MQ.
Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919.
Hum Mol Genet. 1998.
PMID: 9536098
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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