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Nonrandom X-Chromosome Inactivation in Hemopoietic Cells from Carriers of Dyskeratosis Congenita

โœ Scribed by ANNA MARIA FERRARIS; GIAN LUCA FORNI; ROSA MANGERINI; GIAN FRANCO GAETANI


Book ID
117012818
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
302 KB
Volume
61
Category
Article
ISSN
0002-9297

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We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets