New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
Uchiyama
A
A
Department of Pediatrics, Gifu University School of Medicine, Japan.
Tomatsu
S
S
Kondo
N
N
Suzuki
Y
Y
Shimozawa
N
N
Fukuda
S
S
Sukegawa
K
K
Taki
N
N
Inamori
H
H
Orii
T
T
D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005796:Genes; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D017354:Point Mutation
C035801:CCSGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; D005962:Glucosylceramidase