Article
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.
Transfusion - 1 Jan 2013
Chen Jian-Min, Fichou Yann, Jamet Déborah, Dupont Isabelle, Cooper David N, Le Maréchal Cédric, Férec Claude
Abstract excerpt
BACKGROUND: Some 270 variants in the RHD gene have so far been identified. Of these, approximately 6% (n = 17) are small (≤20 bp) deletions occurring within the gene's coding sequence. Fourteen of these small deletions disrupted the reading frame of the RHD gene, resulting almost invariably in a D- phenotype. STUDY DESIGN AND METHODS: Two subjects who displayed D phenotype ambiguity or a genotype-phenotype...
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