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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. / Schäfer, Ellen; Baron, Karin; Widmer, Urs; Deegan, Patrick; Neumann, Hartmut P H; Sunder-Plassmann, Gere; Johansson, Jan-Ove; Whybra, Catharina; Ries, Markus; Pastores, Gregory M; Mehta, Atul; Beck, Michael; Gal, Andreas.

in: HUM MUTAT, Jahrgang 25, Nr. 4, 4, 2005, S. 412.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schäfer, E, Baron, K, Widmer, U, Deegan, P, Neumann, HPH, Sunder-Plassmann, G, Johansson, J-O, Whybra, C, Ries, M, Pastores, GM, Mehta, A, Beck, M & Gal, A 2005, 'Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.', HUM MUTAT, Jg. 25, Nr. 4, 4, S. 412. <http://www.ncbi.nlm.nih.gov/pubmed/15776423?dopt=Citation>

APA

Schäfer, E., Baron, K., Widmer, U., Deegan, P., Neumann, H. P. H., Sunder-Plassmann, G., Johansson, J-O., Whybra, C., Ries, M., Pastores, G. M., Mehta, A., Beck, M., & Gal, A. (2005). Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. HUM MUTAT, 25(4), 412. [4]. http://www.ncbi.nlm.nih.gov/pubmed/15776423?dopt=Citation

Vancouver

Schäfer E, Baron K, Widmer U, Deegan P, Neumann HPH, Sunder-Plassmann G et al. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. HUM MUTAT. 2005;25(4):412. 4.

Bibtex

@article{44c0a360f2e44ae5812bd2deb412658f,
title = "Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.",
abstract = "Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which are reported for the first time here. Both point mutations (74.4%) and 'short length' rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients.",
author = "Ellen Sch{\"a}fer and Karin Baron and Urs Widmer and Patrick Deegan and Neumann, {Hartmut P H} and Gere Sunder-Plassmann and Jan-Ove Johansson and Catharina Whybra and Markus Ries and Pastores, {Gregory M} and Atul Mehta and Michael Beck and Andreas Gal",
year = "2005",
language = "Deutsch",
volume = "25",
pages = "412",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

AU - Schäfer, Ellen

AU - Baron, Karin

AU - Widmer, Urs

AU - Deegan, Patrick

AU - Neumann, Hartmut P H

AU - Sunder-Plassmann, Gere

AU - Johansson, Jan-Ove

AU - Whybra, Catharina

AU - Ries, Markus

AU - Pastores, Gregory M

AU - Mehta, Atul

AU - Beck, Michael

AU - Gal, Andreas

PY - 2005

Y1 - 2005

N2 - Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which are reported for the first time here. Both point mutations (74.4%) and 'short length' rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients.

AB - Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which are reported for the first time here. Both point mutations (74.4%) and 'short length' rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients.

M3 - SCORING: Zeitschriftenaufsatz

VL - 25

SP - 412

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 4

M1 - 4

ER -