PMID- 10450864
OWN - NLM
STAT- MEDLINE
DCOM- 19990928
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 6
DP  - 1999 Jun
TI  - Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile
      retinoschisis.
PG  - 461-5
AB  - The RS1 gene is the causative gene in X-linked juvenile retinoschisis (RS). We
      have screened this gene for mutations in 13 patients with RS and in 7 probands
      with senile retinoschisis, a sporadic, later-onset form of retinoschisis.
      Mutations were detected in all RS patients. Of the 11 different mutations
      identified, six have been reported previously and live are novel. We did not find
      mutations in any of the senile retinoschisis patients and conclude that senile
      retinoschisis is not the result of germline mutations in the RS1 gene.
FAU - Gehrig, A
AU  - Gehrig A
AD  - Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany.
FAU - White, K
AU  - White K
FAU - Lorenz, B
AU  - Lorenz B
FAU - Andrassi, M
AU  - Andrassi M
FAU - Clemens, S
AU  - Clemens S
FAU - Weber, B H
AU  - Weber BH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Eye Proteins)
RN  - 0 (RS1 protein, human)
SB  - IM
MH  - Adult
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Retinal Diseases/*genetics
MH  - *X Chromosome
EDAT- 1999/08/18 00:00
MHDA- 1999/08/18 00:01
CRDT- 1999/08/18 00:00
PHST- 1999/08/18 00:00 [pubmed]
PHST- 1999/08/18 00:01 [medline]
PHST- 1999/08/18 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550611.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jun;55(6):461-5. doi: 10.1034/j.1399-0004.1999.550611.x.