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Results:
1-7
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Results: 7
Authors:
TASSABEHJI M
METCALFE K
HURST J
ASHCROFT G
KIELTY C
WILMOT C
DONNAI D
READ A
JONES C
Citation: M. Tassabehji et al., DIFFERENT RESULTS OF ELASTIN GAIN OF FUNCTION AND LOSS OF FUNCTION MUTATIONS, European journal of human genetics, 6, 1998, pp. 904-904
Authors:
TASSABEHJI M
METCALFE K
HURST J
ASHCROFT GS
KIELTY C
WILMOT C
DONNAI D
READ AP
JONES CJP
Citation: M. Tassabehji et al., AN ELASTIN GENE MUTATION PRODUCING ABNORMAL TROPOELASTIN AND ABNORMALELASTIC FIBERS IN A PATIENT WITH AUTOSOMAL-DOMINANT CUTIS LAXA, Human molecular genetics, 7(6), 1998, pp. 1021-1028
Authors:
ILLIDGE C
KIELTY C
SHUTTLEWORTH A
Citation: C. Illidge et al., THE ALPHA-1(VIII) AND ALPHA-2(VIII) CHAINS OF TYPE-VIII COLLAGEN CAN FORM STABLE HOMOTRIMERIC MOLECULES, The Journal of biological chemistry, 273(34), 1998, pp. 22091-22095
Authors:
LONNQVIST L
KARTTUNEN L
RANTAMAKI T
KIELTY C
RAGHUNATH M
PELTONEN L
Citation: L. Lonnqvist et al., A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME, Genomics, 36(3), 1996, pp. 468-475
Authors:
BISHOP P
AYAD S
REARDON A
MCLEOD D
SHEEHAN J
KIELTY C
Citation: P. Bishop et al., TYPE-VI COLLAGEN IS PRESENT IN HUMAN AND BOVINE VITREOUS, Graefe's archive for clinical and experimental ophthalmology, 234(11), 1996, pp. 710-713
Authors:
BISHOP PN
AYAD S
KIELTY C
MCLEOD D
REARDON A
SHEEHAN J
Citation: Pn. Bishop et al., IDENTIFICATION OF TYPE-VI COLLAGEN MICROFIBRILS IN VITREOUS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 130-130
Authors:
MILEWICZ DM
GROSSFIELD J
CAO SN
KIELTY C
COVITZ W
JEWETT T
Citation: Dm. Milewicz et al., A MUTATION IN FBN1 DISRUPTS PROFIBRILLIN PROCESSING AND RESULTS IN ISOLATED SKELETAL FEATURES OF THE MARFAN-SYNDROME, The Journal of clinical investigation, 95(5), 1995, pp. 2373-2378
Risultati:
1-7
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