Linked Life Data

17560502

Source:http://linkedlifedata.com/resource/pubmed/id/17560502

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2007-6-11
pubmed:abstractText
The objective was to identify arylsulfatase A mutations, if any, in five Chinese patients with metachromatic leukodystrophy. This would be the first such study in China. All eight exons and exon-intron boundaries of the arylsulfatase A gene (ARSA) were amplified with polymerase chain reaction, which was followed by direct DNA sequencing. Patient 1 exhibited a homozygous mutation at c.954G>A (p.W318X) in exon 5. Patient 2 exhibited compound heterozygous mutations, identified as one allele with the c.862C>T (p.R288C) missense mutation in exon 5 and the other allele with the c.1338dupC frameshift mutation in exon 8. Patient 3 exhibited only a c.179_180dupCA frameshift mutation in exon 1 in one allele. Patients 4 and 5 exhibited identical compound heterozygous mutations, identified as one allele with the c.296G>T (p.G99V) missense mutation and the other allele with the c.251G>A (p.R84Q) missense mutation in exon 2. Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
397-401
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
pubmed:affiliation
Department of Pediatrics, Peking University First Hospital, Beijing, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't