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Results: 1-7 |
Results: 7
MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION
Authors: TREACY EP AKERMAN BR CHOW LML YOUIL R BIBEAU C LIN J BRUCE AG KNIGHT M DANKS DM CASHMAN JR FORREST SM
Citation: Ep. Treacy et al., MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION, Human molecular genetics, 7(5), 1998, pp. 839-845
MUTATIONS IN THE FLAVIN-CONTAINING MONOOXYGENASE FORM-3 (FMO3) GENE CAUSE TRIMETHYLAMINURIA, FISH ODOR SYNDROME
Authors: AKERMAN BR CHOW L FORREST S YOUIL R CASHMAN J TREACY EP
Citation: Br. Akerman et al., MUTATIONS IN THE FLAVIN-CONTAINING MONOOXYGENASE FORM-3 (FMO3) GENE CAUSE TRIMETHYLAMINURIA, FISH ODOR SYNDROME, American journal of human genetics, 61(4), 1997, pp. 281-281
NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE
Authors: AKERMAN BR NATOWICZ MR KABACK MM LOYER M CAMPEAU E GRAVEL RA
Citation: Br. Akerman et al., NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE, American journal of human genetics, 60(5), 1997, pp. 1099-1106
DRAMATICALLY DIFFERENT PHENOTYPES IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES
Authors: PHANEUF D WAKAMATSU N HUANG JQ BOROWSKI A PETERSON AC FORTUNATO SR RITTER G IGDOURA SA MORALES CR BENOIT G AKERMAN BR LECLERC D HANAI N MARTH JD TRASLER JM GRAVEL RA
Citation: D. Phaneuf et al., DRAMATICALLY DIFFERENT PHENOTYPES IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES, Human molecular genetics, 5(1), 1996, pp. 1-14
DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE
Authors: OZKARA HA AKERMAN BR CILIV G TOPCU M RENDA Y GRAVEL RA
Citation: Ha. Ozkara et al., DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE, Human mutation, 5(2), 1995, pp. 186-187
A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE
Authors: ZHANG ZX WAKAMATSU N AKERMAN BR MULES EH THOMAS GH GRAVEL RA
Citation: Zx. Zhang et al., A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE, Human molecular genetics, 4(4), 1995, pp. 777-780
MUTATIONS PARTICIPATING IN INTERALLELIC COMPLEMENTATION IN PROPIONIC ACIDEMIA
Authors: GRAVEL RA AKERMAN BR LAMHONWAH AM LOYER M LEONDELRIO A ITALIANO I
Citation: Ra. Gravel et al., MUTATIONS PARTICIPATING IN INTERALLELIC COMPLEMENTATION IN PROPIONIC ACIDEMIA, American journal of human genetics, 55(1), 1994, pp. 51-58
Risultati: 1-7 |