Authors:
VARRET M
RABES JP
THIART R
KOTZE MJ
BARON H
CENARRO A
DESCAMPS O
EBHARDT M
HONDELIJN JC
KOSTNER GM
MIYAKE Y
POCOVI M
SCHMIDT H
SCHMIDT H
SCHUSTER H
STUHRMANN M
YAMAMURA T
JUNIEN C
BEROUD C
BOILEAU C
Citation: M. Varret et al., LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS, Nucleic acids research, 26(1), 1998, pp. 248-252
Authors:
RABES JP
VARRET M
SAINTJORE B
ERLICH D
JONDEAU G
KREMPF M
GIRAUDET P
JUNIEN C
BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION, Human mutation, 10(2), 1997, pp. 160-163
Citation: Jp. Rabes et al., FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .2. FORMS WITH NORMAL LDL RECEPTOR, MS. Medecine sciences, 13(12), 1997, pp. 1409-1418
Authors:
VARRET M
RABES JP
COLLODBEROUD G
JUNIEN C
BOILEAU C
BEROUD C
Citation: M. Varret et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE, Nucleic acids research, 25(1), 1997, pp. 172-180
Authors:
VARRET M
RABES JP
COLLODBEROUD G
JUNIEN C
BEROUD C
BOILEAU C
Citation: M. Varret et al., RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE, Atherosclerosis, 134(1-2), 1997, pp. 74-74
Authors:
RABES JP
TROSSAERT M
CONARD J
SAMAMA M
GIRAUDET P
BOILEAU C
Citation: Jp. Rabes et al., SINGLE-POINT MUTATION AT ARG(506) OF FACTOR-V ASSOCIATED WITH APC RESISTANCE AND VENOUS THROMBOEMBOLISM - IMPROVED DETECTION BY PCR-MEDIATED SITE-DIRECTED MUTAGENESIS, Thrombosis and haemostasis, 74(5), 1995, pp. 1379-1380
Authors:
VARRET M
RABES JP
SAINTJORE B
MARINONI JC
KREMPF M
EHRLICH D
BONAITI C
JUNIEN C
BOILEAU C
Citation: M. Varret et al., TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1901-1901
Authors:
LAVEDAN C
HOFMANNRADVANYI H
BOILEAU C
BONAITIPELLIE C
SAVOY D
SHELBOURNE P
DUROS C
RABES JP
DEHAUPAS I
LUCE S
JOHNSON K
JUNIEN C
Citation: C. Lavedan et al., FRENCH MYOTONIC-DYSTROPHY FAMILIES SHOW EXPANSION OF A CTG REPEAT IN COMPLETE LINKAGE DISEQUILIBRIUM WITH AN INTRAGENIC 1 KB INSERTION, Journal of Medical Genetics, 31(1), 1994, pp. 33-36
Authors:
HOFMANNRADVANYI H
LAVEDAN C
RABES JP
SAVOY D
DUROS C
JOHNSON K
JUNIEN C
Citation: H. Hofmannradvanyi et al., MYOTONIC-DYSTROPHY - ABSENCE OF CTG ENLARGED TRANSCRIPT IN CONGENITALFORMS, AND LOW EXPRESSION OF THE NORMAL ALLELE, Human molecular genetics, 2(8), 1993, pp. 1263-1266
Authors:
LAVEDAN C
HOFMANNRADVANYI H
SHELBOURNE P
RABES JP
DUROS C
SAVOY D
DEHAUPAS I
LUCE S
JOHNSON K
JUNIEN C
Citation: C. Lavedan et al., MYOTONIC-DYSTROPHY - SIZE-DEPENDENT AND SEX-DEPENDENT DYNAMICS OF CTGMEIOTIC INSTABILITY, AND SOMATIC MOSAICISM, American journal of human genetics, 52(5), 1993, pp. 875-883