TRH-Rezeptor
Das TRHR-Gen kodiert den TRH-Rezeptor. Mutationen sind für die autosomal rezessive generalisierte TRH-Resistenz verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Yamada M et al. (1993) Assignment of human thyrotropin-releasing hormone (TRH) receptor gene to chromosome 8.
|
2. |
Matre V et al. (1993) Molecular cloning of a functional human thyrotropin-releasing hormone receptor.
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3. |
Bonomi M et al. (2009) A family with complete resistance to thyrotropin-releasing hormone.
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4. |
Zhao D et al. (1992) Molecular cloning of a complementary deoxyribonucleic acid encoding the thyrotropin-releasing hormone receptor and regulation of its messenger ribonucleic acid in rat GH cells.
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5. |
Straub RE et al. (1990) Expression cloning of a cDNA encoding the mouse pituitary thyrotropin-releasing hormone receptor.
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6. |
Lossie AC et al. (1993) Localization of thyrotropin-releasing hormone receptor and thyrotroph embryonic factor on mouse chromosome 15.
|
7. |
Morrison N et al. (1994) Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization.
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8. |
OMIM.ORG article
Omim 188545
|
9. |
NCBI article
NCBI 7201
|
10. |
Orphanet article
Orphanet ID 120261
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Update: 14. August 2020