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
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