ppGalNAc-T13

ppGalNAc-T13: is expressed in neuron.
ppGalNAc-T13: A New Molecular Marker of Bone Marrow Involvement in ...
27 Jul 2006 ... Conclusion: We propose ppGalNAc-T13 as a new informative marker for the molecular diagnosis of BM involvement and the follow-up of minimal residual disease in NB patients.

???　たくさんありすぎて分からない。
T10
T20

Y family
W family




Human Molecular Genetics,
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
Anna Benet-Pag??s et al.

Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where causal mutations are known in genes FGF23 or PHEX. We investigated an individual with FTC who was negative for GALNT3 mutations. Sequencing revealed a homozygous missense mutation in the FGF23 gene (p.S71G) at an amino acid position which is conserved from fish to man.