Thyroiddyshormonogenesis 2a
Die Thyroiddyshormonogenesis 2a ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TPO-Gen verursacht wird.
Gliederung
Referenzen:
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None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS. [^] |
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Anker R et. al. (1992) Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus. [^] |
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Mangklabruks A et. al. (1991) Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency. [^] |
19. |
Alexander NM et. al. (1970) Thyroxine biosynthesis in human goitrous cretinism. [^] |
20. |
Hagen GA et. al. (1971) Peroxidase deficiency in familial goiter with iodide organification defect. [^] |
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Niepomniszcze H et. al. (1973) Peroxidase defect in congenital goiter with complete organification block. [^] |
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Pommier J et. al. (1974) A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect. [^] |
23. |
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24. |
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26. |
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