| http://purl.uniprot.org/citations/1846005 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1846005 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1846005 | http://www.w3.org/2000/01/rdf-schema#comment | "Two different mutations in the c-erbA beta thyroid hormone receptor have recently been reported as genetic abnormalities responsible for the syndrome of generalized thyroid hormone resistance (GTHR). We have now found in a third kindred, D, in which GTHR is inherited as a dominant disease, a new point mutation in the T3-binding domain of c-erbA beta. A guanine to cytosine base substitution at nucleotide position 1305, which altered codon-335 from glutamine (CAG) to histidine (CAC), was found in one allele of 10 affected members and was not found in 6 unaffected members. This C-1305 sequence was not present in 106 random alleles, indicating that it was a mutation in c-erbA beta, and it was tightly linked to GTHR in kindred D, with a maximum logarithm of the odds score of 4.19 at a recombination fraction of 0. The tight linkage result confirms that GTHR maps to the c-erbA beta locus in multiple kindreds. In view of the tight linkage between the C-1305 mutation and GTHR, and that this mutation is a nonconservative alteration in a crucial region of the T3-binding domain, it is probably the genetic defect in kindred D responsible for GTHR. The kindred D receptor appears to result in a different phenotype of tissue resistance compared to the previously reported kindred. A receptor with a mutation in the carboxy-terminus of c-erbA beta."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem-72-1-32"xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem-72-1-32"xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Berard J."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Berard J."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Menke J.B."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Menke J.B."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Lash R.W."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Lash R.W."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Bale A.E."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Bale A.E."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Bradley W.E.C."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Bradley W.E.C."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Weintraub B.D."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Weintraub B.D."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Watson T.L."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/author | "Watson T.L."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |
| http://purl.uniprot.org/citations/1846005 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |