Source:http://linkedlifedata.com/resource/pubmed/id/11273816
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2001-3-29
|
| pubmed:abstractText |
The aim of this study was to develop a rapid, non-radioactive and effective method for the molecular diagnosis of fragile X syndrome (FXS) by the polymerase chain reaction (PCR) of the CGG repeat and to establish a protocol to be used in: a)ruling out FXS in patients with non-specific mental retardation; b)determining the exact genotype of affected individuals; c)studying all at-risk individuals from families with FXS and identifying asymptomatic carriers, and d)offering accurate genetic and reproductive counselling to families with FXS.
|
| pubmed:language |
spa
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0302-4342
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
54
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
331-9
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:11273816-Adult,
pubmed-meshheading:11273816-Aged,
pubmed-meshheading:11273816-Child,
pubmed-meshheading:11273816-Clinical Protocols,
pubmed-meshheading:11273816-Female,
pubmed-meshheading:11273816-Fragile X Syndrome,
pubmed-meshheading:11273816-Humans,
pubmed-meshheading:11273816-Male,
pubmed-meshheading:11273816-Microsatellite Repeats,
pubmed-meshheading:11273816-Mutation,
pubmed-meshheading:11273816-Pedigree,
pubmed-meshheading:11273816-Polymerase Chain Reaction,
pubmed-meshheading:11273816-Spain
|
| pubmed:year |
2001
|
| pubmed:articleTitle |
[Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain].
|
| pubmed:affiliation |
Unidad de Genética, Hospital de Basurto, Bilbao.
|
| pubmed:publicationType |
Journal Article,
English Abstract
|