A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
Journal Of Medical Genetics
North, Teri-Louise TL; Ben-Shlomo, Yoav Y; Cooper, Cyrus C; Deary, Ian J IJ; Gallacher, John J; Kivimaki, Mika M; Kumari, Meena M; Martin, Richard M RM; Pattie, Alison A; Sayer, Avan Aihie AA; Starr, John M JM; Wong, Andrew A; Kuh, Diana D; Rodriguez, Santiago S; Day, Ian N M IN
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Jimd Reports
Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC