TY  - GEN
AU  - Ono,Hiroaki
AU  - Sakura,Nobuo
AU  - Yamashita,Katsuko
AU  - Yuasa,Isao
AU  - Ohno,Kousaku
TI  - Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia
SN  - 0387-7604
PY  - 2003///1121
KW  - Codon, Nonsense
KW  - Congenital Disorders of Glycosylation
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Male
KW  - Phosphotransferases (Phosphomutases)
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/s0387-7604(03)00063-9
ER  -