Linked Life Data

17547680

Source:http://linkedlifedata.com/resource/pubmed/id/17547680

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-7-30
pubmed:abstractText
Iodide organification defects are frequently but not always associated with mutations in the thyroid peroxidase (TPO) gene and characterized by a positive perchlorate discharge test. These mutations phenotypically produce a congenital goitrous hypothyroidism, with an autosomal recessive mode of inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0300-0664
pubmed:author
pubmed:issnType
Print
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
238-46
pubmed:meshHeading
pubmed-meshheading:17547680-Amino Acid Sequence, pubmed-meshheading:17547680-Animals, pubmed-meshheading:17547680-Base Sequence, pubmed-meshheading:17547680-Congenital Hypothyroidism, pubmed-meshheading:17547680-Female, pubmed-meshheading:17547680-Genes, Recessive, pubmed-meshheading:17547680-Heterozygote, pubmed-meshheading:17547680-Humans, pubmed-meshheading:17547680-Iodide Peroxidase, pubmed-meshheading:17547680-Iodides, pubmed-meshheading:17547680-Membrane Proteins, pubmed-meshheading:17547680-Molecular Sequence Data, pubmed-meshheading:17547680-Mutation, pubmed-meshheading:17547680-Pedigree, pubmed-meshheading:17547680-Perchloric Acid, pubmed-meshheading:17547680-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:17547680-Protein Structure, Secondary, pubmed-meshheading:17547680-Protein Structure, Tertiary, pubmed-meshheading:17547680-Sequence Analysis, DNA, pubmed-meshheading:17547680-Sequence Homology
pubmed:year
2007
pubmed:articleTitle
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
pubmed:affiliation
Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 956, 1113 Buenos Aires, Argentina.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't