Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity-Reference-Cited by-同舟云学术

Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

Published:1998-10 Issue:4 Volume:63 Page:1036-1048
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Botta Elena,Nardo Tiziana,Broughton Bernard C.,Marinoni Stefano,Lehmann Alan R.,Stefanini Miria

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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