Human and Clinical Genetics - Leiden University Medical Center

RetinoschisisDB^©

X-linked Retinoschisis sequence variation database

(modified last January 24, 2008)

The Retinoschisis Web-site and sequence variation database was initiated through the efforts of the Retinoschisis Consortium and is currently maintained by Dr J.T. den Dunnen. If you have any interesting information/data, please report it and we will add it to these pages. For submission of allelic variants: sequence variation submission form.

Contents

• The Retinoschisis Consortium: the six collaborating groups
• Sequence variations in the RS1 gene
  • coding DNA Reference Sequence  (used for description of allelic varaints)
  • sequence variation submission form
• The RS1 gene
  • primers for amplification (with PCR conditions)
• The RS1 protein:
  • alignment of RS1 proteins
  • alignment of discoidin domain sequences
• Useful Links
• These pages

Useful Links

If you want to learn more about the disease X-linked juvenile retinoschisis or the RS1 gene, please follow one of these links:

• Kellog Eye Center, Michigan, USA
• The Foundation Fighting Blindness
• Retinoschisis entry in OMIM
• Retina International
  • RS1 mutation database

These pages

Correspondence regarding these pages should be addressed to:

Dr. J.T. den Dunnen
Human and Clinical Genetics
Leiden University Medical Center
Einthovenweg 20
2333ZC LEIDEN
Nederland
Tel: +31 - 71 - 526 9501 / 9400 ; Fax: +31 - 71 - 526 8285
E-mail: ddunnen @ lumc.nl (Subject: RS)

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