Authors:
VANDENHURK JAJM
SCHWARTZ M
VANBOKHOVEN H
VANDEPOL TJR
BOGERD L
PINCKERS AJLG
BLEEKERWAGEMAKERS EM
PAWLOWITZKI IH
RUTHER K
ROPERS HH
CREMERS FPM
Citation: Jajm. Vandenhurk et al., MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE, Human mutation, 9(2), 1997, pp. 110-117
Authors:
PREISING MN
ALTRUP U
PUECH B
PAWLOWITZKI IH
Citation: Mn. Preising et al., CHARACTERIZATION OF A NOVEL POINT MUTATION OF THE RHODOPSIN GENE (CYS-167 TRP), Investigative ophthalmology & visual science, 38(4), 1997, pp. 3708-3708
Citation: Mn. Preising et Ih. Pawlowitzki, EVALUATION OF A SPLICE-SITE MUTATION IN INTRON-14 OF THE CHOROIDEREMIA GENE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 509-509
Authors:
KUSTERS U
PREISING MN
LORENZ B
PAWLOWITZKI IH
Citation: U. Kusters et al., CHARACTERIZATION OF A NOVEL PARTIAL DELETION OF THE CHOROIDEREMIA GENE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 510-510
Authors:
ANDRASSI M
LORENZ B
PREISING M
PAWLOWITZKI IH
Citation: M. Andrassi et al., PSYCHOPHYSICAL FOLLOW-UP IN A FAMILY WITH PARTIAL DELETION OF THE CHOROIDEREMIA GENE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 2297-2297
Authors:
VANBOKHOVEN H
SCHWARTZ M
ANDREASSON S
VANDENHURK JAJM
BOGERD L
JAY M
RUTHER K
JAY B
PAWLOWITZKI IH
SANKILA EM
WRIGHT A
ROPERS HH
ROSENBERG T
CREMERS FPM
Citation: H. Vanbokhoven et al., MUTATION SPECTRUM IN THE CHM GENE OF DANISH AND SWEDISH CHOROIDEREMIAPATIENTS, Human molecular genetics, 3(7), 1994, pp. 1047-1051
Citation: M. Preising et al., POOLED DNA PCR - A NEW PROCEDURE FOR GENE LOCALIZATION STUDIES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1312-1312
Citation: Mn. Preising et Ih. Pawlowitzki, MOLECULAR SCREENING OF EXONS A1, A2, A3, AND E OF THE CHOROIDEREMIA GENE, American journal of human genetics, 53(3), 1993, pp. 1216-1216