In this issue of Blood, Zhang at al report that hypomorphic mutations in FHL-causing genes correlate with a later-onset and a more indolent course in adult patients. 1 Another important study on the same disease led to the identification of alterations in an evolutionarily conserved intronic region, thus highlighting the importance of searching for aberrations outside the coding region of the implicated gene.
Immunodeficiency diagnosis: a Mondrian or Pollock scenario? / Pignata, Claudio; Giardino, Giuliana. - In: BLOOD. - ISSN 0006-4971. - 118:(2011), pp. 5714-5716. [10.1182/blood-2011-09-379065]
Immunodeficiency diagnosis: a Mondrian or Pollock scenario?
PIGNATA, CLAUDIO;GIARDINO, GIULIANA
2011
Abstract
In this issue of Blood, Zhang at al report that hypomorphic mutations in FHL-causing genes correlate with a later-onset and a more indolent course in adult patients. 1 Another important study on the same disease led to the identification of alterations in an evolutionarily conserved intronic region, thus highlighting the importance of searching for aberrations outside the coding region of the implicated gene.File in questo prodotto:
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