A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

Source:http://linkedlifedata.com/resource/pubmed/id/8137822

EMBO J. 1994 Mar 15 13 6 1386-95

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PMID
8137822