Document Detail


Use of restriction fragment length polymorphism analysis for detecting carriers of "fragile X" syndrome.
MedLine Citation:
PMID:  2889542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recombinant DNA technology promises to play an increasingly important role in the future of medicine. Application of this technology to the study of human disease will help us to define and clarify the molecular pathology of many clinical disorders, provide new diagnostic tools and approaches, and, finally, will provide new therapeutic agents including gene-replacement therapy. We have begun to exploit these powerful new techniques to aid in the laboratory diagnosis of several genetic disorders for which reliable assays are currently not available, such as "Fragile X" syndrome.
Authors:
S N Thibodeau
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinical chemistry     Volume:  33     ISSN:  0009-9147     ISO Abbreviation:  Clin. Chem.     Publication Date:  1987 Oct 
Date Detail:
Created Date:  1987-11-25     Completed Date:  1987-11-25     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9421549     Medline TA:  Clin Chem     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1726-30     Citation Subset:  IM    
Affiliation:
Children's Hospital, Denver, CO 80218.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Banding
DNA, Recombinant / analysis
Female
Fragile X Syndrome / genetics*
Heterozygote Detection*
Humans
Male
Mental Retardation / genetics
Pedigree
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length*
Sex Chromosome Aberrations / genetics*
Chemical
Reg. No./Substance:
0/DNA, Recombinant

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


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