Citations for
1TCN2
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.
Häberle J, Pauli S, Berning C, Koch HG, Linnebank M.
J Hum Genet 54(6):331-4. Epub 2009 Apr 17.PMID: 19373259 2009
2TCN2
Transcobalamin II deficiency at birth.
Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA.
Mol Genet Metab 98(3):285-8. Epub 2009 Jun 6.PMID: 19581117 2009
3TCN2
Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).
Gueant JL, Chabi NW, Gueant-Rodriguez RM, Mutchinick OM, Debard R, Payet C, Lu X, Villaume C, Bronowicki JP, Quadros EV, Sanni A, Amouzou E, Xia B, Chen M, Anello G, Bosco P, Romano C, Arrieta HR, Sanchez BE, Romano A, Herbeth B, Anwar W, Namour F.
J Med Genet 44(6):363-7. Epub 2007 Jan 12. 2007
4TCN2
Function and stability of human transcobalamin II: role of intramolecular disulfide bonds C98-C291 and C147-C187.
Kalra S, Li N, Seetharam S, Alpers DH, Seetharam B.
Am J Physiol Cell Physiol 285(1):C150-60. Epub 2003 Mar 26. 2003
5TCN2
The cloning and characterization of the human transcobalamin II gene.
Regec A, et al.
Blood 85 : 2711-2719. 1995
6TCN2
Molecular basis of human transcobalamin II deficiency in an affected family. (abstr)
Li N, et al.
Am J Hum Genet 55 : A229. 1994
7TCN2
Polymorphism of human transcobalamin II : substitution of proline and/or glutamine residues by arginine.
Li N, et al.
Biochim Biophys Acta 1219 : 515-520. 1994
8TCN2
Nonsense mutations in human transcobalamin II deficiency.
Li N, et al.
Biochem Biophys Res Commun 204 : 1111-1118. 1994
9TCN2
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.
Barshop BA, et al.
Am J Med Genet 35 : 222-228. 1990
10TCN2
Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells.
Arwert F, et al.
Hum Genet 74 : 378-381. 1986
11PBGS, TCN2
Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22.
Eiberg H, et al.
Clin Genet 29 : 354-359. 1986
12TCN2
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.
Hakami N, et al.
N Engl J Med 285 : 1163-1170. 1971