Two novel frame shift, recurrent and de novo mutations in the ITGB2 (CD18) gene causing leukocyte adhesion deficiency in a highly inbred North African population

We have identified four different mutations causing leukocyte adhesion deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our...

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Detalles Bibliográficos
Autores principales: Fathallah, D. M, Jamal, T., Barbouche, M. R, Bejaoui, M., Hariz, M. Ben, Dellagi, K.
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2001
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC129056/
https://www.ncbi.nlm.nih.gov/pubmed/12488604
http://dx.doi.org/10.1155/S1110724301000250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC129056/
https://www.ncbi.nlm.nih.gov/pubmed/12488604
http://dx.doi.org/10.1155/S1110724301000250

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