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C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema (1993)

Siddique, Z. ; McPhaden, A. R. ; Whaley, K.

Springer

Human genetics 〈Berlin〉 92 (1993), S. 189-190

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract The polymerase chain reaction and nucleotide sequence analysis have been used to characterise a three nucleotide insertion in the eighth exon of one allele of the C1-inhibitor gene between nucleotides 16749 and 16750 in a kindred with type II hereditary angio-oedema (HAE). The effect of the resulting C1-inhibitor amino acid sequence alteration is discussed. This represents the first report of a nucleotide insertion in the C1-inhibitor gene causing type II HAE.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00219690

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