|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1997-6-25
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|
pubmed:abstractText |
We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method. CONCLUSION: Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1,717-2(A > G).
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0340-6199
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
156
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
212-3
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|
pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:9083763-Blood Proteins,
pubmed-meshheading:9083763-Child,
pubmed-meshheading:9083763-Cystic Fibrosis,
pubmed-meshheading:9083763-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:9083763-DNA Mutational Analysis,
pubmed-meshheading:9083763-Female,
pubmed-meshheading:9083763-Genotype,
pubmed-meshheading:9083763-Heterozygote Detection,
pubmed-meshheading:9083763-Humans,
pubmed-meshheading:9083763-Male,
pubmed-meshheading:9083763-Romania
|
|
pubmed:year |
1997
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|
pubmed:articleTitle |
Cystic fibrosis mutations in Romania.
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|
pubmed:affiliation |
Clinic II Paediatrics, Timisoara, Romania.
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|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
