Linked Life Data

8848937

Source:http://linkedlifedata.com/resource/pubmed/id/8848937

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-10-23
pubmed:abstractText
We performed DNA analysis in four families with hereditary neuropathy with liability to pressure palsy (HNPP). An interstitial deletion of the 17 p11.2 region was found in typically affected patients as well as in as yet asymptomatic patients. The opportunity for an individual genotyping permitted to ascertain a de novo deletion in one clinically affected case with no relevant familial history. DNA analysis thus becomes the most sensitive tool in diagnosing HNPP, since potentially affected patients may lack either informative familial history, or clinical symptoms or even suggestive EMG or histopathological data (tomaculas).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
313-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.
pubmed:affiliation
Service d'Explorations Fonctionnelles et Consultations Neurologiques, Centre Hospitalier Lyon-Sud, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't