PMID- 10627133
OWN - NLM
STAT- MEDLINE
DCOM- 20000104
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 1
DP  - 1998
TI  - Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish
      families affected with autosomal dominant retinal degenerations. Mutations in
      brief no. 147. Online.
PG  - 70
AB  - Among 43 unrelated Spanish patients affected with autosomal dominant (AD)
      photoreceptor disorders a study of RDS-peripherin gene was performed. We found
      three different unreported mutations 689delT, 857del17, corresponding to two
      macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving
      us a proportion of about 20% of RDS mutations in autosomal dominant Spanish
      macular dystrophies and 3% in ADRP.
FAU - Trujillo, M J
AU  - Trujillo MJ
AD  - Department of Ophthalmology, Fundacion Jimenez Daz, Avenida de los Reyes
      Catolicos No 2, 28040 Madrid, Spain fjd@genetica.jet.es
FAU - Bueno, J
AU  - Bueno J
FAU - Osorio, A
AU  - Osorio A
FAU - Sanz, R
AU  - Sanz R
FAU - Garcia-Sandoval, B
AU  - Garcia-Sandoval B
FAU - Ramos, C
AU  - Ramos C
FAU - Ayuso, C
AU  - Ayuso C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Genes, Dominant/*genetics
MH  - Humans
MH  - Mutation/*genetics
MH  - Retinal Degeneration/*genetics
MH  - Retinitis Pigmentosa/genetics
MH  - Spain
EDAT- 2000/01/08 09:00
MHDA- 2000/06/22 10:00
CRDT- 2000/01/08 09:00
PHST- 2000/01/08 09:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 2000/01/08 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M [pii]
AID - 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G [doi]
PST - ppublish
SO  - Hum Mutat. 1998;12(1):70. doi:
      10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G.