Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans-Reference-Cited by-同舟云学术

Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans

Published:2013-02 Issue:1 Volume:27 Page:32-37
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Sobek Anna K.U.,Evers Christina,Dekomien Gabriele

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference37 articles.

1. The detection of large deletions or duplications in genomic DNA;Armour;Hum Mutat,2002

2. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification;Schouten;Nucleic Acids Res,2002

3. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants;Zampieri;PloS One,2012

4. Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs;Sandhoff;Life Sci,1968

5. A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslated region;Kleiman;Hum Mutat,1998

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