Linked Life Data

8845715

Source:http://linkedlifedata.com/resource/pubmed/id/8845715

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1996-10-24
pubmed:abstractText
In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel. Additionally, we have identified two novel polymorphisms within this gene located in close proximity to the mutation. Haplotype analysis using these and other polymorphisms indicates that these families do not share a common mutation due to a founder effect. Rather, an HOPP phenotype has arisen in these families from three separate but identical mutations.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
27-31
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
pubmed:affiliation
Department of Genetics, Harvard University, MA, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't