|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015295,
umls-concept:C0017362,
umls-concept:C0019425,
umls-concept:C0026882,
umls-concept:C0028630,
umls-concept:C0056889,
umls-concept:C0182400,
umls-concept:C0205132,
umls-concept:C0205263,
umls-concept:C0205419,
umls-concept:C0733755,
umls-concept:C1510438,
umls-concept:C1553643
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2011-2-22
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|
pubmed:abstractText |
To explain the lack of genotype-phenotype correlation observed in a patient double heterozygous for the 852del22 and F508del mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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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 |
1556-5653
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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|
pubmed:issnType |
Electronic
|
|
pubmed:day |
1
|
|
pubmed:volume |
95
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1121.e1-4
|
|
pubmed:meshHeading |
pubmed-meshheading:21067729-Adult,
pubmed-meshheading:21067729-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:21067729-False Positive Reactions,
pubmed-meshheading:21067729-Fertilization in Vitro,
pubmed-meshheading:21067729-Gene Deletion,
pubmed-meshheading:21067729-Genetic Testing,
pubmed-meshheading:21067729-Genetic Variation,
pubmed-meshheading:21067729-Heterozygote,
pubmed-meshheading:21067729-Humans,
pubmed-meshheading:21067729-Infertility, Male,
pubmed-meshheading:21067729-Male,
pubmed-meshheading:21067729-Reproducibility of Results
|
|
pubmed:year |
2011
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|
pubmed:articleTitle |
Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay.
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|
pubmed:affiliation |
Medical Laboratory Department, Genetics Section, Pordenone Hospital, Pordenone, Italy. gmiolo@libero.it
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pubmed:publicationType |
Journal Article,
Case Reports
|
