Linked Life Data

12202988

Source:http://linkedlifedata.com/resource/pubmed/id/12202988

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2002-8-30
pubmed:abstractText
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found. The parents of Patient 2 had a consanguinous marriage, but other families did not have any record of consanguinity. Two families were from Okinawa Island, where more patients with Sanfilippo syndrome were found than in other areas in Japan. Patients 1 and 6 showed the most severe phenotype with rapid progression. Patients 2, 5, and 7 were moderate. Patients 3 and 4 (sib cases) showed an attenuated form compared with other patients. Patients 1, 2, and 6 were homozygous for R482W, R565W, and R565P, respectively. Patients 3 and 4 were compound heterozygous for F314L and R565P. Patient 5 had delTG2171-2172 in exon 6 in one allele, and the other allele was unknown. Patient 7 was compound heterozygous for V241M and R482W. The family of Patients 3 and 4 and that of Patient 6 are unrelated, although both families are from Okinawa Island, and the patients have the same mutation, R565P; thus, R565P might be a common mutation in the Okinawa district. F314L and V241M are novel mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
484-7
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.
pubmed:affiliation
Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka 545-8585, Japan. akemi-chan@ed.osaka-cu.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't