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Article

A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.

1 May 1994

Abstract excerpt

Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then determined. In each case a point mutation was identified at nucleotide 653 which causes an Arg to His...

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PMID: 8064810
DOI: 10.1136/jmg.31.5.355

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