TY  - GEN
AU  - Al-Jasmi,Fatma
AU  - Abdelhaleem,Mohamed
AU  - Stockley,Tracy
AU  - Lee,Kyong-Soon
AU  - Clarke,Joe T R
TI  - Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis
SN  - 1536-3678
PY  - 2008///1014
KW  - Adult
KW  - Codon, Nonsense
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Lymphohistiocytosis, Hemophagocytic
KW  - genetics
KW  - Male
KW  - Mothers
KW  - Pedigree
KW  - Perforin
KW  - Uniparental Disomy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1097/MPH.0b013e31817580fd
ER  -