TY  - GEN
AU  - Mizugishi,K
AU  - Yamanaka,K
AU  - Kuwajima,K
AU  - Yuasa,I
AU  - Shigemoto,K
AU  - Kondo,I
TI  - Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
SN  - 0387-7604
PY  - 1999///0908
KW  - Adolescent
KW  - Child
KW  - Congenital Disorders of Glycosylation
KW  - blood
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Isoelectric Focusing
KW  - Japan
KW  - Mutation, Missense
KW  - Phosphotransferases (Phosphomutases)
KW  - genetics
KW  - Polymerase Chain Reaction
KW  - Transferrin
KW  - analogs & derivatives
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/s0387-7604(99)00004-2
ER  -