Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI
| ISSN: |
0006-291X
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| Source: |
Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
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| Topics: |
Biology
Chemistry and Pharmacology
Physics
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798292264888303616 |
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| autor | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| autorsonst | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| book_url | http://dx.doi.org/10.1006/bbrc.1993.2375 |
| datenlieferant | nat_lic_papers |
| fussnote | Deficiency of the lysosomal enzyme arylsulphatase B (ASB) causes, in man, the Maroteaux-Lamy disease (mucopolysaccharidosis type VI, MPS VI). MPS VI has been described also in Siamese cats. Isolation and characterization of the human and feline cDNAs encoding ASB has been reported as well as the assignment of the feline ASB gene to feline chromosome A1. The present paper describes the Southern and Northern blot analyses on DNA and RNA from an MPS VI affected cat using the human arylsulphatase B probe (ASB2). Our data suggest that a gross deletion/rearrangement of the ASB gene is present in the affected animal. |
| hauptsatz | hsatz_simple |
| identnr | NLZ183483189 |
| iqvoc_descriptor_title | iqvoc_00000708:Analysis |
| issn | 0006-291X |
| journal_name | Biochemical and Biophysical Research Communications |
| materialart | 1 |
| package_name | Elsevier |
| publikationsort | Amsterdam |
| publisher | Elsevier |
| reference | 196 (1993), S. 1177-1182 |
| search_space | articles |
| shingle_author_1 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| shingle_author_2 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| shingle_author_3 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| shingle_author_4 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. |
| shingle_catch_all_1 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI 0006-291X 0006291X Elsevier |
| shingle_catch_all_2 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI 0006-291X 0006291X Elsevier |
| shingle_catch_all_3 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI 0006-291X 0006291X Elsevier |
| shingle_catch_all_4 | Deluca, T. Minichiello, L. Leone, A. Dinatale, P. Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI 0006-291X 0006291X Elsevier |
| shingle_title_1 | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI |
| shingle_title_2 | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI |
| shingle_title_3 | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI |
| shingle_title_4 | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 |
| timestamp | 2024-05-06T08:45:45.422Z |
| titel | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI |
| titel_suche | Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis VI Deficiency of the lysosomal enzyme arylsulphatase B (ASB) causes, in man, the Maroteaux-Lamy disease (mucopolysaccharidosis type VI, MPS VI). MPS VI has been described also in Siamese cats. Isolation and characterization of the human and feline cDNAs encoding ASB has been reported as well as the assignment of the feline ASB gene to feline chromosome A1. The present paper describes the Southern and Northern blot analyses on DNA and RNA from an MPS VI affected cat using the human arylsulphatase B probe (ASB2). Our data suggest that a gross deletion/rearrangement of the ASB gene is present in the affected animal. |
| topic | W V U |
| uid | nat_lic_papers_NLZ183483189 |