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	1.	[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9]. [electronic resource] by Abifadel, M Rabès, J-P Boileau, C Varret, M Producer: 20071012 In: Annales d'endocrinologie vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Genetic heterogeneity of autosomal dominant hypercholesterolemia. [electronic resource] by Varret, M Abifadel, M Rabès, J-P Boileau, C Producer: 20080229 In: Clinical genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. [electronic resource] by Lavedan, C Hofmann-Radvanyi, H Rabes, J P Roume, J Junien, C Producer: 19930211 In: Lancet (London, England) vol. 341 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis. [electronic resource] by Rabès, J P Trossaert, M Conard, J Samama, M Giraudet, P Boileau, C Producer: 19960523 In: Thrombosis and haemostasis vol. 74 Availability: No items available. Save to lists Add to cart (remove)
	5.	Software and database for the analysis of mutations in the human LDL receptor gene. [electronic resource] by Varret, M Rabès, J P Collod-Béroud, G Junien, C Boileau, C Béroud, C Producer: 19970228 In: Nucleic acids research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. [electronic resource] by Hofmann-Radvanyi, H Lavedan, C Rabès, J P Savoy, D Duros, C Johnson, K Junien, C Producer: 19931105 In: Human molecular genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. [electronic resource] by Rabès, J P Varret, M Devillers, M Aegerter, P Villéger, L Krempf, M Junien, C Boileau, C Producer: 20001109 In: Arteriosclerosis, thrombosis, and vascular biology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	[Familial hypercholesterolemia: A largely underestimated cardiovascular risk]. [electronic resource] by Ferrières, J Bruckert, É Béliard, S Rabès, J-P Farnier, M Krempf, M Cariou, B Danchin, N Producer: 20181015 In: Annales de cardiologie et d'angeiologie vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. [electronic resource] by Rabès, J P Varret, M Saint-Jore, B Erlich, D Jondeau, G Krempf, M Giraudet, P Junien, C Boileau, C Producer: 19970930 In: Human mutation vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. [electronic resource] by Lavedan, C Hofmann-Radvanyi, H Shelbourne, P Rabes, J P Duros, C Savoy, D Dehaupas, I Luce, S Johnson, K Junien, C Producer: 19930607 In: American journal of human genetics vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	11.	Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method. [electronic resource] by Abifadel, M Jambart, S Allard, D Rabès, J-P Varret, M Derré, A Chouery, E Salem, N Junien, C Aydénian, H Boileau, C Producer: 20040927 In: Clinical genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. [electronic resource] by Lavedan, C Hofmann-Radvanyi, H Boileau, C Bonaïti-Pellié, C Savoy, D Shelbourne, P Duros, C Rabes, J P Dehaupas, I Luce, S Producer: 19940510 In: Journal of medical genetics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. [electronic resource] by Chater, R Aït Chihab, K Rabès, J P Varret, M Chabraoui, L El Jahiri, Y Adlouni, A Boileau, C Kettani, A El Messal, M Producer: 20061222 In: Clinica chimica acta; international journal of clinical chemistry vol. 373 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia. [electronic resource] by Jelassi, A Jguirim, I Najah, M Abid, A M Boughamoura, L Maatouk, F Rouis, M Boileau, C Rabès, J P Slimane, M N Varret, M Producer: 20090825 In: Atherosclerosis vol. 203 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family. [electronic resource] by Jelassi, A Najah, M Jguirim, I Maatouk, F Lestavel, S Laroussi, O S Rouis, M Boileau, C Rabès, J P Varret, M Slimane, M N Producer: 20080731 In: Clinica chimica acta; international journal of clinical chemistry vol. 392 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A PCSK9 variant and familial combined hyperlipidaemia. [electronic resource] by Abifadel, M Bernier, L Dubuc, G Nuel, G Rabès, J-P Bonneau, J Marques, A Marduel, M Devillers, M Munnich, A Erlich, D Varret, M Roy, M Davignon, J Boileau, C Producer: 20090202 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects. [electronic resource] by Saint-Jore, B Varret, M Dachet, C Rabès, J P Devillers, M Erlich, D Blanchard, P Krempf, M Mathé, D Chanu, B Jacotot, B Farnier, M Bonaïti-Péllié, C Junien, C Boileau, C Producer: 20001207 In: European journal of human genetics : EJHG vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis. [electronic resource] by Varret, M Rabés, J P Thiart, R Kotze, M J Baron, H Cenarro, A Descamps, O Ebhardt, M Hondelijn, J C Kostner, G M Miyake, Y Pocovi, M Schmidt, H Schuster, H Stuhrmann, M Yamamura, T Junien, C Béroud, C Boileau, C Producer: 19980218 In: Nucleic acids research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. [electronic resource] by Varret, M Rabès, J P Saint-Jore, B Cenarro, A Marinoni, J C Civeira, F Devillers, M Krempf, M Coulon, M Thiart, R Kotze, M J Schmidt, H Buzzi, J C Kostner, G M Bertolini, S Pocovi, M Rosa, A Farnier, M Martinez, M Junien, C Boileau, C Producer: 19990520 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)