Document Detail

DNA analysis in patients with hereditary fructose intolerance.
MedLine Citation:
PMID:  6093679     Owner:  NLM     Status:  MEDLINE    
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.
C Grégori; C Besmond; M Odievre; A Kahn; J C Dreyfus
Related Documents :
17160209 - Familial history of type 2 diabetes in patients from southern brazil and its influence ...
15853829 - Arg16gly polymorphism in beta2-adrenergic receptor gene is not associated with thyrotox...
21269159 - Electropalatographic investigation of abnormal lingual-palatal contact patterns in clef...
20685669 - Epigenotype-phenotype correlations in silver-russell syndrome.
1033489 - Erythrocyte shape in duchenne muscular dystrophy.
15151509 - Bronchiectasis in adult patients: an expression of heterozygosity for cftr gene mutations?
18652769 - Predictive value of serum-soluble cd154 in fulminant hepatic failure.
21880999 - Bilateral somatosensory cortex disinhibition in complex regional pain syndrome type i.
12876469 - Olfactory dysfunction in hereditary ataxia and basal ganglia disorders.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Carbohydrate Metabolism, Inborn Errors / genetics*
DNA / analysis*
DNA Restriction Enzymes
Fructose Intolerance / genetics*
Fructose-Bisphosphate Aldolase / genetics*
Nucleic Acid Hybridization
Reg. No./Substance:
9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes; EC Aldolase

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

Previous Document:  Five cases of arsine poisoning.
Next Document:  Principles and pitfalls of nerve conduction studies.