Linked Life Data

6549130

Source:http://linkedlifedata.com/resource/pubmed/id/6549130

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1985-2-4
pubmed:databankReference
pubmed:abstractText
An amino acid substitution of Met for Val at position 30 of plasma prealbumin is known to be closely related to heredo-familial amyloidotic polyneuropathy(FAP). As a first step in development of a direct method for diagnosis of the disease, cDNA for normal human prealbumin was cloned and its nucleotide sequence was determined. Our results showed that the nucleotide substitution responsible for the Val----Met change results in formation of new restriction sites for BalI and NsiI. By Southern blot hybridization analysis, the expected restriction sites were actually detected in the prealbumin locus of patients. Thus, a method was developed for diagnosis of the disease presymptomatically and prenatally.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
14
pubmed:volume
125
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
636-42
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't