Document Detail


DNA analysis in patients with hereditary fructose intolerance.
MedLine Citation:
PMID:  6093679     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Restriction fragments of the aldolase B gene were studied in 11 patients with hereditary fructose intolerance and compared with the normal pattern. No major deletion of the gene was observed. One patient was found to be a compound heterozygote since one allele with normal restriction sites was inherited from the mother and the other with an abnormal Bam HI site was inherited from the father. The anomaly of the Bam HI fragment observed in this family was not found in 62 normal controls from the same origin as the patient.
Authors:
C Grégori; C Besmond; M Odievre; A Kahn; J C Dreyfus
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of human genetics     Volume:  48     ISSN:  0003-4800     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  1984 Oct 
Date Detail:
Created Date:  1984-12-19     Completed Date:  1984-12-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  291-6     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Carbohydrate Metabolism, Inborn Errors / genetics*
DNA / analysis*
DNA Restriction Enzymes
Female
Fructose Intolerance / genetics*
Fructose-Bisphosphate Aldolase / genetics*
Humans
Male
Nucleic Acid Hybridization
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes; EC 4.1.2.13/Fructose-Bisphosphate Aldolase

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


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