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The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on...

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Bibliographische Detailangaben
Hauptverfasser: Ellis, N A, Ciocci, S, Proytcheva, M, Lennon, D, Groden, J, German, J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1998
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377640/
https://ncbi.nlm.nih.gov/pubmed/9837821
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