Linked Life Data

7749410

Source:http://linkedlifedata.com/resource/pubmed/id/7749410

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-6-21
pubmed:abstractText
The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G substitution in intron 2, the deletion of the CYP21 gene and a T-A substitution in exon 4 in the severe form of the disease, and a G-T substitution in exon 7 in the nonclassic form. The correlation between the genotypes and the clinical forms of the disease showed marked variation in the phenotype from a single genotype, suggesting that individual variation and undetected additional mutations on the same CAH chromosome accounted for the phenotype. In 65 informative meioses of CAH families, no de novo mutation was found.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:geneSymbol
CYP21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
126-30
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
pubmed:affiliation
Centre d'Etudes de Biologie Prénatale, SESEP-Laboratoire, Château de Longchamp, Bois de Boulogne, Paris, France.
pubmed:publicationType
Journal Article