Article
Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease.
Prenatal diagnosis - 1 Sept 2002
Li Lanying, Zhou Yungui, Wang Junhua, Hu Diana, Cowan Morton J
Abstract excerpt
OBJECTIVES: Severe combined immunodeficiency disease occurs at a high incidence among Athabascan-speaking Navajo and Apache children (SCIDA). We linked the SCIDA gene to chromosome 10p and recently identified a common nonsense mutation in Artemis/SCIDA. In this study we compared polymorphic markers linked to SCIDA and the point mutation which creates an NspI site on exon 8 for prenatal diagnosis and carrier...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.