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Results: 4

Authors: HUTTON M LENDON CL RIZZU P BAKER M FROELICH S HOULDEN H PICKERINGBROWN S CHAKRAVERTY S ISAACS A GROVER A HACKETT J ADAMSON J LINCOLN S DICKSON D DAVIES P PETERSEN RC STEVENS M DEGRAAFF E WAUTERS E VANBAREN J HILLEBRAND M JOOSSE M KWON JM NOWOTNY P CHE LK NORTON J MORRIS JC REED LA TROJANOWSKI J BASUN H LANNFELT L NEYSTAT M FAHN S DARK F TANNENBERG T DODD PR HAYWARD N KWOK JBJ SCHOFIELD PR ANDREADIS A SNOWDEN J CRAUFURD D NEARY D OWEN F OOSTRA BA HARDY J GOATE A VANSWIETEN J MANN D LYNCH T HEUTINK P
Citation: M. Hutton et al., ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17, Nature, 393(6686), 1998, pp. 702-705

Authors: KROOS MA WAITFIELD AE JOOSSE M WINCHESTER B REUSER AJJ MACDERMOT KD
Citation: Ma. Kroos et al., A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Journal of inherited metabolic disease, 20(4), 1997, pp. 556-558

Authors: HERMANS MMP DEGRAAFF E KROOS MA MOHKAMSING S EUSSEN BJ JOOSSE M WILLEMSEN R KLEIJER WJ OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Human molecular genetics, 3(12), 1994, pp. 2213-2218

Authors: VANDERKRAAN M KROOS MA JOOSSE M BIJVOET AGA VERBEET MP KLEIJER WJ REUSER AJJ
Citation: M. Vanderkraan et al., DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II, Biochemical and biophysical research communications, 203(3), 1994, pp. 1535-1541
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