A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
Faiyaz-Ul-Haque
M
M
Al-Jefri
A
A
Abalkhail
H A
HA
Toulimat
M
M
Al-Muallimi
M A
MA
Pulicat
M S
MS
Gaafar
A
A
Alaiya
A A
AA
Al-Dayel
F
F
Peltekova
I
I
Zaidi
S H E
SH
D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D001483:Base Sequence; D001772:Blood Cell Count; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000737:chemistry / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D011506:Proteins