Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.

Al-Jasmi, Fatma

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. [electronic resource] - Journal of pediatric hematology/oncology Aug 2008 - 621-4 p. digital

Publication Type: Case Reports; Journal Article

1536-3678

10.1097/MPH.0b013e31817580fd doi


Adult
Codon, Nonsense
Female
Humans
Infant, Newborn
Lymphohistiocytosis, Hemophagocytic--genetics
Male
Mothers
Pedigree
Perforin--genetics
Uniparental Disomy--genetics