Download BIBLIOGRAPHIE - Constellation

III-B-204
BYCK S., MORGAN K., TYFIELD L., DWORNICZAK B., SCRIVER C.R. (1994).
« Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W
mutation on two haplotypes in European and Quebec populations », Hum. Molec.
Genet. Vol. 3, pp. 1675-1677.
III-B-205
SCRIVER C.R. (1994). « Science, medicine and phenylketonuria », Acta. Paediat r.,
Suppl. 407, pp. 11-18.
III-B-206
EISENSMITH R.C., GOLTSOV A.A., O'NEILL C., TYFIELD L.A., SCHWARTZ
E.I., KUZMIN A.I., BARANOVSKAYA S.S., TSUKERMAN G.L., TREACY E.,
SCRIVER C.R., GUTTLER F., GULDBERG P., EIKEN H.G., APOLD H.G.,
SVENSSON E., NAUGHTEN E., CAHALANE S.F., CROKE D.T., COCKBURN F.,
WOO S.L.C. (1995). « Recurrence of the R408W mutation in the phenylalanine
hydroxylase locus in Europeans », Am. J. Hum. Genet., Vol. 56, pp. 278-286.
III-B-207
SCRIVER C.R.,KAUFMAN S., EISENSMITH R.C., WOO S.L.C. (1995). « The
hyperphenylalaninemias », dans C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.),
The Metabolic and Molecular Bases of Inherited Disease, New York, McGraw-Hill,
Chapter 27, pp. 1015-1075.
III-B-208
SCRIVER C.R. (1995). « Whatever happened to PKU? », Clin. Biochem., Vol. 28, 1,
pp. 137-144.
III-B-209
BRAIS B., XIE Y.-G., SANSON M. MORGAN K., WEISSENBACH J., KORCZYN
A.D., BLUMEN S.C., FARDEAU M., TOMÉ F.M.S., BOUCHARD J.-P., ROULEAU
G.A. (1995). « The oculopharyngeal muscular dystrophy locus maps to the region of
the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13 »,
Hum. Mol. Genet., Vol. 4, pp. 429-434.
Aussi dans: (1995). Can. J. Neurol. Sci., Vol. 22, Suppl. 1, pp. S17.
III-B-210
MITCHELL G.A., LAMBERT M., TANGUAY R.M. (1995). « Hypertyrosinemia »,
dans C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.), The Metabolic and
M 4.5 0 TD -0.0996 Tc 0.0996 Tw (P., R?1Ou26 Tc 0.1115 0 TD 1115 0 Tc 1.4976 Tw (, New Y