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Authors:
REDONNETVERNHET I
VANAMSTEL JKP
JANSEN RPM
WEVERS RA
SALVAYRE R
LEVADE T
Citation: I. Redonnetvernhet et al., UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE, Journal of Medical Genetics, 33(8), 1996, pp. 682-688
Citation: Jkp. Vanamstel et al., 6 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FAMILIES WITH FABRY DISEASE, Human molecular genetics, 3(3), 1994, pp. 503-505
Authors:
LIPS CJM
LANDSVATER RM
HOPPENER JWM
GEERDINK RA
BLIJHAM G
VANVEEN JMJS
VANGILS APG
DEWIT MJ
ZEWALD RA
BERENDS MJH
BEEMER FA
BROUWERSSMALBRAAK J
JANSEN RPM
VANAMSTEL HKP
VANVROONHOVEN TJM
VROOM TM
Citation: Cjm. Lips et al., CLINICAL SCREENING AS COMPARED WITH DNA ANALYSIS IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, The New England journal of medicine, 331(13), 1994, pp. 828-835