Document Detail


Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.
MedLine Citation:
PMID:  6311728     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant beta-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the delta-beta A- and delta-beta Mi-globin gene regions.
Authors:
R Oehme; E Kohne; E Kleihauer; J Horst
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  64     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1983  
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  376-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
DNA / analysis
DNA Restriction Enzymes
Female
Genes*
Genes, Dominant
Globins / genetics*
Hemoglobin M / genetics*
Hemoglobinopathies / genetics*
Hemoglobins, Abnormal / genetics*
Humans
Male
Mutation*
Pedigree
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 9004-22-2/Globins; 9007-49-2/DNA; 9035-05-6/hemoglobin M Milwaukee; 9083-28-7/Hemoglobin M; EC 3.1.21.-/DNA Restriction Enzymes

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


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