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A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
A case of congenital goiter with defective thyroglobulin synthesis has been studied in molecular terms. The patient is the fifth of a kindred of six, three of which have a goiter. The parents are first cousins. Segregation of thyroglobulin alleles in the family was studied by Southern blotting with...
में बचाया:
| मुख्य लेखकों: | , , , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
1991
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC295759/ https://ncbi.nlm.nih.gov/pubmed/1752952 |
| टैग : |
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