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Volumn 38, Issue 5, 2007, Pages 261-263
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Association of HAX1 deficiency with neurological disorder
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Author keywords
Convulsion; Developmental delay; HAX1; Mutation; Neurological disorder; Severe congenital neutropenia
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Indexed keywords
LAMOTRIGINE;
PHENOBARBITAL;
RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;
ABSCESS;
ARTICLE;
ATAXIA;
CASE REPORT;
CONVULSION;
ELECTROENCEPHALOGRAM;
FEMALE;
GENE;
GENETIC ASSOCIATION;
HAX1 GENE;
HUMAN;
IMMUNE DEFICIENCY;
MOUTH ULCER;
NEUTROPENIA;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NUCLEOTIDE SEQUENCE;
OTITIS MEDIA;
PRIORITY JOURNAL;
PSYCHOMOTOR RETARDATION;
SCHOOL CHILD;
SEIZURE;
STRABISMUS;
BACTERIAL INFECTIONS;
BASE PAIRING;
CHILD;
CODON, NONSENSE;
DEVELOPMENTAL DISABILITIES;
DNA MUTATIONAL ANALYSIS;
ELECTROENCEPHALOGRAPHY;
EPILEPSIES, MYOCLONIC;
FEMALE;
HOMOZYGOTE;
HUMANS;
IMMUNOLOGIC DEFICIENCY SYNDROMES;
NEUROLOGIC EXAMINATION;
NEUTROPENIA;
OPPORTUNISTIC INFECTIONS;
PEDIGREE;
PHENOTYPE;
PROTEINS;
RECURRENCE;
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EID: 41549148667
PISSN: 0174304X
EISSN: None
Source Type: Journal
DOI: 10.1055/s-2008-1062704 Document Type: Article |
Times cited : (36)
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References (10)
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