|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0001627,
umls-concept:C0002085,
umls-concept:C0012634,
umls-concept:C0021289,
umls-concept:C0033053,
umls-concept:C0547040,
umls-concept:C0560175,
umls-concept:C0750490,
umls-concept:C1413861,
umls-concept:C1511790,
umls-concept:C1522419,
umls-concept:C1706209,
umls-concept:C1706221,
umls-concept:C1864609
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|
pubmed:issue |
8
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|
pubmed:dateCreated |
2010-7-27
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pubmed:abstractText |
Couples at risk of severe congenital adrenal hyperplasia (CAH) may be offered prenatal treatment or preimplantation diagnosis. However, proper genetic counselling requires the accurate identification of apparently 'mild alleles' in partners of CAH-carriers/patients.
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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 |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1097-0223
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pubmed:author |
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pubmed:copyrightInfo |
(c) 2010 John Wiley & Sons, Ltd.
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pubmed:issnType |
Electronic
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
758-63
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pubmed:meshHeading |
pubmed-meshheading:20661889-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:20661889-Alleles,
pubmed-meshheading:20661889-DNA,
pubmed-meshheading:20661889-Female,
pubmed-meshheading:20661889-Genetic Counseling,
pubmed-meshheading:20661889-Genetic Variation,
pubmed-meshheading:20661889-Heterozygote,
pubmed-meshheading:20661889-Humans,
pubmed-meshheading:20661889-Infant, Newborn,
pubmed-meshheading:20661889-Male,
pubmed-meshheading:20661889-Microsatellite Repeats,
pubmed-meshheading:20661889-Polymerase Chain Reaction,
pubmed-meshheading:20661889-Polymorphism, Single Nucleotide,
pubmed-meshheading:20661889-Prenatal Diagnosis,
pubmed-meshheading:20661889-Steroid 21-Hydroxylase
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pubmed:year |
2010
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pubmed:articleTitle |
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
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pubmed:affiliation |
Laboratorio de Diagnóstico Molecular, Hospital Universitario Gregorio Marañón, Madrid, Spain. bezquieta.hgugm@salud.madrid.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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