Gene: [22q1/TCN2] transcobalamin II (vitamin B12 binding protein); vitamin B12 binding deficiency (macrocytic anemia);
|
REF |
LOC,CYG "Arwert &: Hum Genet, 74, 378-381, 1986 LOC,LIN "Eiberg H &: Clin Genet, 29, 354-359, 1986 REV,PAT,FOG "Frater-Schroder M: Mol Cell Biochem, 56, 5-31, 1983 REV,IDN,FOG "Frater-Schroder M &: Hum Genet, 61, 165-166, 1982 HIS,PAT,PHE,FOG "Hakami &: New Engl J Med, 285, 1163-1170, 1971 HIS,PAT,PHE,FOG "Hall CA: Yale J Biol Med, 54, 485-495, 1981 PND "Mayes &: AJHG, 41, 686-687, 1987 HIS,PAT,PHE,FOG "Meyers, Carmel: Pediatrics, 74, 866-871, 1984 FOG,POG "Porck &: AJHG, 36, 710-717, 1984 IDN,PEP,FUN "Quadros EV &: JBC, 261, 15455-15460, 1986 CLO,SEQ,EXP "Regec A &: Blood, 85, N10, 2711-2719, 1995 PND "Rosenblatt &: Prenatal Diag, 7, 35-39, 1987 HIS,PAT,PHE,FOG "Scott &: J Pediatr, 81, 1106-1111, 1972 TER "Zeitlin &: Blood, 66, 1022-1027, 1985 |
|
KEY |
hem, trp, mtbd, vit, git |
|
CLA |
coding, basic |
|
LOC |
22 q12-13 |
|
MIM |
MIM: 275350 |
