Document Detail


Gene deletion in an Italian haemophilia B subject.
MedLine Citation:
PMID:  4045960     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.
Authors:
F Bernardi; L del Senno; R Barbieri; D Buzzoni; R Gambari; G Marchetti; F Conconi; F Panicucci; M Positano; S Pitruzzello
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  22     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1985 Aug 
Date Detail:
Created Date:  1985-10-31     Completed Date:  1985-10-31     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  305-7     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion
Factor IX / genetics*
Hemophilia A / genetics*
Humans
Italy / ethnology
Male
Nucleic Acid Hybridization
Plasmids
Chemical
Reg. No./Substance:
9001-28-9/Factor IX
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  High incidence of Meckel's syndrome in Gujarati Indians.
Next Document:  Two brothers with Martsolf's syndrome.