Document Detail

A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.
MedLine Citation:
PMID:  8619554     Owner:  NLM     Status:  MEDLINE    
McLeod syndrome is an X-linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the family revealed a novel point mutation in exon 2 that creates a frameshift and results in premature termination of translation. There was marked skewing of X inactivation in the severely affected female.
M F Ho; R M Chalmers; M B Davis; A E Harding; A P Monaco
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  39     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1996 May 
Date Detail:
Created Date:  1996-06-13     Completed Date:  1996-06-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  672-5     Citation Subset:  IM    
Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford.
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MeSH Terms
Acanthocytes / physiology*
Dosage Compensation, Genetic
Frameshift Mutation / genetics
Genetic Diseases, Inborn / genetics
Genetic Testing
Hematopoietic System / cytology,  physiopathology
Kell Blood-Group System / genetics*
Middle Aged
Neuromuscular Diseases / genetics*
Point Mutation / genetics
Sequence Analysis, DNA
Reg. No./Substance:
0/Kell Blood-Group System

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

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