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Results: 1-8 |
Results: 8
A MUTATION SCREEN OF THE TSC1 GENE REVEALS 26 PROTEIN TRUNCATING MUTATIONS AND 1 SPLICE-SITE MUTATION IN A PANEL OF 79 TUBEROUS SCLEROSIS PATIENTS
Authors: YOUNG JM BURLEY MW JEREMIAH SJ JEGANATHAN D EKONG R OSBORNE JP POVEY S
Citation: Jm. Young et al., A MUTATION SCREEN OF THE TSC1 GENE REVEALS 26 PROTEIN TRUNCATING MUTATIONS AND 1 SPLICE-SITE MUTATION IN A PANEL OF 79 TUBEROUS SCLEROSIS PATIENTS, Annals of Human Genetics, 62, 1998, pp. 203-213
DOMINANTLY INHERITED DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IS ASSOCIATED WITH MUTATIONS IN THE RED-CELL ANION-EXCHANGER (BAND-3, AE1) GENE
Authors: BRUCE L COPE D JONES G SCHOFIELD A BURLEY MW POVEY S UNWIN R WRONG O TANNER M
Citation: L. Bruce et al., DOMINANTLY INHERITED DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IS ASSOCIATED WITH MUTATIONS IN THE RED-CELL ANION-EXCHANGER (BAND-3, AE1) GENE, Journal of the American Society of Nephrology, 8, 1997, pp. 1788-1788
MAPPING ESTS TO THE TSC1 CANDIDATE INTERVAL BY USE OF THE SCIENCE-96 TRANSCRIPT MAP
Authors: WOLFE J JEREMIAH S YOUNG J BURLEY MW STEWART H MCCULLEY M GRANT C NAZ K POVEY S
Citation: J. Wolfe et al., MAPPING ESTS TO THE TSC1 CANDIDATE INTERVAL BY USE OF THE SCIENCE-96 TRANSCRIPT MAP, Annals of Human Genetics, 61, 1997, pp. 401-409
A DENSE STR-MAP OF 1.5-MB OF 9Q34 - SMALL REDUCTION IN THE TSC1-CRITICAL-REGION
Authors: KWIATKOWSKI DJ HUMPHREY D VANSLEGTENHORST M ATTWOOD J HAINES JL BURLEY MW HORNIGOLD N SMITH M NAHMIAS J FAURE S POVEY S
Citation: Dj. Kwiatkowski et al., A DENSE STR-MAP OF 1.5-MB OF 9Q34 - SMALL REDUCTION IN THE TSC1-CRITICAL-REGION, Annals of Human Genetics, 61, 1997, pp. 214-215
MUTATION SCREENING FOR TSC1 IN UK FAMILIES WITH TUBEROUS SCLEROSIS PROVIDES AN EXPLANATION FOR AN APPARENT CASE OF NON-PENETRANCE
Authors: POVEY S BURLEY MW YOUNG J JEREMIAH SJ JEGANATHAN D EKONG R FOX M OSBORNE J
Citation: S. Povey et al., MUTATION SCREENING FOR TSC1 IN UK FAMILIES WITH TUBEROUS SCLEROSIS PROVIDES AN EXPLANATION FOR AN APPARENT CASE OF NON-PENETRANCE, American journal of human genetics, 61(4), 1997, pp. 2015-2015
ALTERED RED-CELL ANION-EXCHANGER (BAND-3, AE1) ASSOCIATED WITH FAMILIAL DISTAL RENAL TUBULAR-ACIDOSIS
Authors: COPE DL BRUCE LJ SCHOFIELD AE UNWIN RJ WRONG OM POVEY S BURLEY MW TANNER MJ
Citation: Dl. Cope et al., ALTERED RED-CELL ANION-EXCHANGER (BAND-3, AE1) ASSOCIATED WITH FAMILIAL DISTAL RENAL TUBULAR-ACIDOSIS, Journal of the American Society of Nephrology, 7(9), 1996, pp. 3028-3028
2-LOCI FOR TUBEROUS-SCLEROSIS - ONE ON 9Q34 AND ONE ON 16P13
Authors: POVEY S BURLEY MW ATTWOOD J BENHAM F HUNT D JEREMIAH SJ FRANKLIN D GILLETT G MALAS S ROBSON EB TIPPETT P EDWARDS JH KWIATKOWSKI DJ SUPER M MUELLER R FRYER A CLARKE A WEBB D OSBORNE J
Citation: S. Povey et al., 2-LOCI FOR TUBEROUS-SCLEROSIS - ONE ON 9Q34 AND ONE ON 16P13, Annals of Human Genetics, 58, 1994, pp. 107-127
LINKAGE STUDIES IN TUBEROUS SCLEROSIS
Authors: BURLEY MW ATTWOOD J BENHAM F FAIRBROTHER U GILLETT G HUNT D JEREMIAH S NAHMIAS J EDWARDS JH KWIATKOWSKI D TIPPETT P WEBB D FRYER A SUPER M MUELLER R OSBORNE J POVEY S
Citation: Mw. Burley et al., LINKAGE STUDIES IN TUBEROUS SCLEROSIS, Cytogenetics and cell genetics, 64(2), 1993, pp. 109-109
Risultati: 1-8 |