|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015295,
umls-concept:C0015506,
umls-concept:C0025663,
umls-concept:C0026882,
umls-concept:C0439851,
umls-concept:C0678227,
umls-concept:C0728938,
umls-concept:C1442161,
umls-concept:C1513778,
umls-concept:C1519595,
umls-concept:C1552596,
umls-concept:C1947931
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2001-5-30
|
|
pubmed:abstractText |
A splicing defect with 201 nucleotide deletion in the factor VIII transcript due to IVS15 + 1G > T mutation inactivating this donor splice site and activating a cryptic acceptor splice site in exon 16 was identified in a severe haemophilia A patient. Allele specific amplification (ASA) method was successfully developed for direct detection of this mutation.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
1351-8216
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
7
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
335-8
|
|
pubmed:dateRevised |
2009-10-21
|
|
pubmed:meshHeading |
pubmed-meshheading:11380640-Alleles,
pubmed-meshheading:11380640-Exons,
pubmed-meshheading:11380640-Factor VIII,
pubmed-meshheading:11380640-Family Health,
pubmed-meshheading:11380640-Female,
pubmed-meshheading:11380640-Hemophilia A,
pubmed-meshheading:11380640-Humans,
pubmed-meshheading:11380640-Male,
pubmed-meshheading:11380640-Mutation,
pubmed-meshheading:11380640-Polymerase Chain Reaction,
pubmed-meshheading:11380640-RNA, Messenger,
pubmed-meshheading:11380640-RNA Splicing,
pubmed-meshheading:11380640-Sequence Deletion
|
|
pubmed:year |
2001
|
|
pubmed:articleTitle |
Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.
|
|
pubmed:publicationType |
Letter,
Case Reports,
Research Support, Non-U.S. Gov't
|
