Cargando…
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report
INTRODUCTION: About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been report...
Autores principales: | Hellani, Ali, Almassri, Nidal, Abu-Amero, Khaled K |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726518/ https://www.ncbi.nlm.nih.gov/pubmed/19830125 http://dx.doi.org/10.1186/1752-1947-3-6799 |
Ejemplares similares
-
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report
por: Hellani, Ali, et al.
Publicado: (2009) -
Absence of mtDNA mutations in leukocytes of CADASIL patients
por: Abu-Amero, Khaled K, et al.
Publicado: (2008) -
Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis
por: Mohamed, Sarar, et al.
Publicado: (2014) -
Review of Treatment for Adenosine Deaminase Deficiency (ADA) Severe Combined Immunodeficiency (SCID)
por: Secord, Elizabeth, et al.
Publicado: (2022) -
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID)
por: Booth, Claire, et al.
Publicado: (2009)