Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-12-15
pubmed:abstractText
We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice junction mutation at the 5' end of intron 2 in the carbonic anhydrase II gene (CAII) previously described in six CAII-deficient patients presumed to be of Arab origin. All our patients were homozygous for this mutation and were mentally retarded, a characteristic feature of the phenotype of patients with an Arabic background. This mutation is found exclusively in patients with an Arabic background and thus may be confined to this ethnic group.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
581-2
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.
pubmed:affiliation
Laboratory of Hematology and Immunopathology, Institut Pasteur Tunis, Tunisia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't