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Items: 15

1.
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann
JIMD Rep. 2013; 7: 99–102. Published online 2012 Jul 1. doi: 10.1007/8904_2012_154
PMCID:
PMC3573177
ArticlePDF–80K
2.
Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene
Malte Lenders, Thomas Duning, Michael Schelleckes, Boris Schmitz, Sonja Stander, Arndt Rolfs, Stefan-Martin Brand, Eva Brand
PLoS One. 2013; 8(2): e55565. Published online 2013 Feb 5. doi: 10.1371/journal.pone.0055565
PMCID:
PMC3564750
ArticlePDF–1014K
3.
The regulation of splice-site selection, and its role in human disease.
T A Cooper, W Mattox
Am J Hum Genet. 1997 Aug; 61(2): 259–266. doi: 10.1086/514856
PMCID:
PMC1715899
SummaryPage BrowsePDF–1.4M
4.
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
H Sakuraba, A Oshima, Y Fukuhara, M Shimmoto, Y Nagao, D F Bishop, R J Desnick, Y Suzuki
Am J Hum Genet. 1990 Nov; 47(5): 784–789.
PMCID:
PMC1683686
SummaryPage BrowsePDF–1.1M
5.
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
C M Eng, L A Resnick-Silverman, D J Niehaus, K H Astrin, R J Desnick
Am J Hum Genet. 1993 Dec; 53(6): 1186–1197.
PMCID:
PMC1682507
SummaryPage BrowsePDF–1.9M
6.
Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation
Makiko Yasuda, Junaid Shabbeer, Makiko Osawa, Robert J. Desnick
Am J Hum Genet. 2003 Jul; 73(1): 162–173. Published online 2003 Jun 6. doi: 10.1086/376608
PMCID:
PMC1180577
ArticlePDF–418K
7.
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
L Hasholt, S A Sørensen, A Wandall, E B Andersen, P Arlien-Søborg
J Med Genet. 1990 May; 27(5): 303–306. doi: 10.1136/jmg.27.5.303
PMCID:
PMC1017080
SummaryPage BrowsePDF–859K
8.
Sequence variations in the first exon of alpha-galactosidase A.
J P Davies, B G Winchester, S Malcolm
J Med Genet. 1993 Aug; 30(8): 658–663. doi: 10.1136/jmg.30.8.658
PMCID:
PMC1016494
SummaryPage BrowsePDF–1.3M
9.
A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
N Miyamura, E Araki, K Matsuda, R Yoshimura, N Furukawa, K Tsuruzoe, T Shirotani, H Kishikawa, K Yamaguchi, M Shichiri
J Clin Invest. 1996 Oct 15; 98(8): 1809–1817. doi: 10.1172/JCI118981
PMCID:
PMC507620
SummaryPDF–384K
10.
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
D H Calhoun, D F Bishop, H S Bernstein, M Quinn, P Hantzopoulos, R J Desnick
Proc Natl Acad Sci U S A. 1985 Nov; 82(21): 7364–7368. doi: 10.1073/pnas.82.21.7364
PMCID:
PMC391345
SummaryPage BrowsePDF–1.2M
11.
Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype
Satoshi Ishii, Shoichiro Nakao, Reiko Minamikawa-Tachino, Robert J. Desnick, Jian-Qiang Fan
Am J Hum Genet. 2002 Apr; 70(4): 994–1002. Published online 2002 Feb 4. doi: 10.1086/339431
PMCID:
PMC379133
ArticlePDF–332K
12.
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.
D F Bishop, D H Calhoun, H S Bernstein, P Hantzopoulos, M Quinn, R J Desnick
Proc Natl Acad Sci U S A. 1986 Jul; 83(13): 4859–4863. doi: 10.1073/pnas.83.13.4859
PMCID:
PMC323842
SummaryPage BrowsePDF–1.0M
13.
Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
F J Novo, A Kruszewski, K D MacDermot, G Goldspink, D C Górecki
Nucleic Acids Res. 1995 Jul 25; 23(14): 2636–2640. doi: 10.1093/nar/23.14.2636
PMCID:
PMC307086
SummaryPage BrowsePDF–918K
14.
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
H S Bernstein, D F Bishop, K H Astrin, R Kornreich, C M Eng, H Sakuraba, R J Desnick
J Clin Invest. 1989 Apr; 83(4): 1390–1399. doi: 10.1172/JCI114027
PMCID:
PMC303833
SummaryPage BrowsePDF–2.6M
15.
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
D F Bishop, R Kornreich, R J Desnick
Proc Natl Acad Sci U S A. 1988 Jun; 85(11): 3903–3907. doi: 10.1073/pnas.85.11.3903
PMCID:
PMC280328
SummaryPage BrowsePDF–1.1M

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