Linked Life Data

19856255

Source:http://linkedlifedata.com/resource/pubmed/id/19856255

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-10-18
pubmed:abstractText
Albright's hereditary osteodystrophy (AHO) is an inherited disorder and results from heterozygous loss of function mutation within the human G (s)? gene (GNAS1). AHO appears in two phenotypes, that may occur within the same family. Pseudohypoparathyroidism type Ia (PHP Ia) comprises the clinical features of AHO associated with parathyroid hormone (PTH) resistance while pseudo-pseudohypoparathyroidism (PPHP) includes AHO features without PTH resistance. In the present study we report a mother and a daughter with PPHP and PHP Ia respectively. The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1439-3646
pubmed:author
pubmed:copyrightInfo
© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.
pubmed:issnType
Electronic
pubmed:volume
118
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
586-90
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
pubmed:affiliation
Department of Internal Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany.
pubmed:publicationType
Journal Article, Case Reports