Document Detail


Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.
MedLine Citation:
PMID:  9447300     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha gene in Japanese patients, we have screened exons 2-13 of the Gs alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gs alpha gene may not be a common cause of PHP with AHO in Japanese.
Authors:
K Takeda; M Yokoyama; K Hashimoto; Y Hiromatsu; H Yamanaka; T Shimizu; M Sasaki
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Endocrine journal     Volume:  44     ISSN:  0918-8959     ISO Abbreviation:  Endocr. J.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1998-03-13     Completed Date:  1998-03-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9313485     Medline TA:  Endocr J     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  621-5     Citation Subset:  IM    
Affiliation:
Department of Clinical Laboratory Medicine, Kochi Medical School, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Exons*
Female
Fibrous Dysplasia, Polyostotic / genetics*
GTP-Binding Protein alpha Subunits, Gs / genetics*
Humans
Japan
Male
Middle Aged
Mutation
Pseudohypoparathyroidism / genetics*
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
EC 3.6.5.1/GTP-Binding Protein alpha Subunits, Gs

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


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