Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

Diamond-Blackfan anemia (DBA) is a rare pure red-cell hypoplasia of unknown etiology and pathogenesis. A major DBA locus has previously been localized to chromosome 19q13.2. Samples from additional families have been collected to identify key recombinations, microdeletions, and the possibility of he...

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Hauptverfasser: Gustavsson, P, Garelli, E, Draptchinskaia, N, Ball, S, Willig, T N, Tentler, D, Dianzani, I, Punnett, H H, Shafer, F E, Cario, H, Ramenghi, U, Glomstein, A, Pfeiffer, R A, Goringe, A, Olivieri, N F, Smibert, E, Tchernia, G, Elinder, G, Dahl, N
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1998
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377548/
https://ncbi.nlm.nih.gov/pubmed/9792865
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