rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2009-11-30
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pubmed:abstractText |
The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the severity of CFTR mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/ALPI protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Alkaline Phosphatase,
http://linkedlifedata.com/resource/pubmed/chemical/Antigens, CD13,
http://linkedlifedata.com/resource/pubmed/chemical/Antigens, Neoplasm,
http://linkedlifedata.com/resource/pubmed/chemical/CFTR protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Cystic Fibrosis Transmembrane...,
http://linkedlifedata.com/resource/pubmed/chemical/GPI-Linked Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Isoenzymes,
http://linkedlifedata.com/resource/pubmed/chemical/gamma-Glutamyltransferase
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1530-8561
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pubmed:author |
|
pubmed:issnType |
Electronic
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pubmed:volume |
55
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2214-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19833837-Alkaline Phosphatase,
pubmed-meshheading:19833837-Amniotic Fluid,
pubmed-meshheading:19833837-Antigens, CD13,
pubmed-meshheading:19833837-Antigens, Neoplasm,
pubmed-meshheading:19833837-Cystic Fibrosis,
pubmed-meshheading:19833837-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:19833837-Databases, Factual,
pubmed-meshheading:19833837-Fetus,
pubmed-meshheading:19833837-GPI-Linked Proteins,
pubmed-meshheading:19833837-Humans,
pubmed-meshheading:19833837-Intestines,
pubmed-meshheading:19833837-Isoenzymes,
pubmed-meshheading:19833837-Mutation,
pubmed-meshheading:19833837-Prenatal Diagnosis,
pubmed-meshheading:19833837-Prospective Studies,
pubmed-meshheading:19833837-gamma-Glutamyltransferase
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pubmed:year |
2009
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pubmed:articleTitle |
Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.
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pubmed:affiliation |
Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.
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pubmed:publicationType |
Journal Article
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