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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1996-9-25
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pubmed:abstractText |
Mutations in the hexosaminidase A gene (HEXA) causing the B1 variant of GM2-gangliosidosis result in the presence of a mutant enzyme protein with a catalytically defective alpha subunit. A rare and panethnically distributed mutation, transition G533A (Arg178His), is known to be a common allele among Portuguese patients with the subacute phenotype. We now report the presence of an Arg178His allele in three Portuguese sibs with a chronic form of the disease, who carry the transition G755A (Arg252His) on the second allele. This novel mutation is the first B1 allele to be associated with an adult phenotype.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-1817024,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-1832817,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-1838125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-1840099,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2136940,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2137287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2138256,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2933746,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2961848,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2965573,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-2972716,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-3158659,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-6226523,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-7827134,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-7959736,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8730294-8044648
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
341-3
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:8730294-Adult,
pubmed-meshheading:8730294-Alleles,
pubmed-meshheading:8730294-Amino Acid Sequence,
pubmed-meshheading:8730294-Arginine,
pubmed-meshheading:8730294-DNA Mutational Analysis,
pubmed-meshheading:8730294-G(M2) Ganglioside,
pubmed-meshheading:8730294-Gangliosidoses,
pubmed-meshheading:8730294-Hexosaminidase A,
pubmed-meshheading:8730294-Histidine,
pubmed-meshheading:8730294-Humans,
pubmed-meshheading:8730294-Molecular Sequence Data,
pubmed-meshheading:8730294-Pedigree,
pubmed-meshheading:8730294-Phenotype,
pubmed-meshheading:8730294-Polymerase Chain Reaction,
pubmed-meshheading:8730294-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8730294-Portugal,
pubmed-meshheading:8730294-beta-N-Acetylhexosaminidases
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pubmed:year |
1996
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pubmed:articleTitle |
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
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pubmed:affiliation |
Instituto de Genética Médica Jacinto de Magalhães, Unidade de Enzimologia, Porto, Portugal.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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