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Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

par Deladoëy, Johnny;Pfarr, Nicole;Vuissoz, Jean-Marc;Parma, Jasmine ;Vassart, Gilbert ;Biesterfeld, Stefan;Pohlenz, Joachim;Van Vliet, G.
Référence The Journal of clinical endocrinology and metabolism, 93, 2, page (627-633)
Publication Publié, 2008-02

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Titre:	Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
Auteur:	Deladoëy, Johnny; Pfarr, Nicole; Vuissoz, Jean-Marc; Parma, Jasmine; Vassart, Gilbert; Biesterfeld, Stefan; Pohlenz, Joachim; Van Vliet, G.
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 93, 2, page (627-633)
Statut de publication:	Publié, 2008-02
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Amino Acid Sequence
	Base Sequence
	Congenital Hypothyroidism -- enzymology
	Congenital Hypothyroidism -- genetics
	DNA -- genetics
	Female
	Goiter -- enzymology
	Goiter -- genetics
	Humans
	Infant, Newborn
	Iodide Peroxidase -- chemistry
	Iodide Peroxidase -- genetics
	Male
	Models, Molecular
	Molecular Sequence Data
	Mutation
	Pedigree
	Polymerase Chain Reaction
	Sequence Alignment
	Static Electricity
	Surface Properties
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:doi/10.1210/jc.2007-2276
	info:pii/jc.2007-2276
	info:scp/39049085332
	info:pmid/18029453