Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

Boztug, K

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. [electronic resource] - Clinical genetics Jul 2008 - 68-74 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/j.1399-0004.2008.01019.x doi


Child, Preschool
Codon, Nonsense
Humans
Male
Mosaicism
Siblings
Wiskott-Aldrich Syndrome--genetics
Wiskott-Aldrich Syndrome Protein--genetics