Document Detail


Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
MedLine Citation:
PMID:  2837087     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed: Xpter - L1 - AHC - GK - DMD - Xcen. One of the boys with DMD, GK, and AHC is shown by pulsed-field-gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus.
Authors:
K E Davies; M N Patterson; S J Kenwrick; M V Bell; H R Sloan; J A Westman; L J Elsas; J Mahan
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  29     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Mar 
Date Detail:
Created Date:  1988-06-24     Completed Date:  1988-06-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  557-64     Citation Subset:  IM    
Affiliation:
Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Acid Phosphatase / metabolism
Adrenal Insufficiency / congenital*,  enzymology,  genetics
Cell Line
Child
Child, Preschool
Chromosome Deletion*
Chromosome Mapping
DNA / genetics
Glycerol Kinase / deficiency*,  genetics,  metabolism
Humans
Male
Phosphotransferases / deficiency*
Sex Chromosome Aberrations
X Chromosome*
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 2.7.-/Phosphotransferases; EC 2.7.1.30/Glycerol Kinase; EC 3.1.3.2/Acid Phosphatase

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