A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Faiyaz-Ul-Haque, Muhammad

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. [electronic resource] - European journal of pediatrics Jun 2010 - 661-6 p. digital

Publication Type: Case Reports; Journal Article

1432-1076

10.1007/s00431-010-1150-6 doi


Adaptor Proteins, Signal Transducing--genetics
Apoptosis
Arabs--genetics
Child
Codon, Nonsense
DNA Mutational Analysis
Developmental Disabilities--ethnology
Epilepsy, Generalized--ethnology
Humans
Male
Membrane Potential, Mitochondrial
Neutropenia--complications
Neutrophils--metabolism
Pedigree
Saudi Arabia