PMID- 10090910
OWN - NLM
STAT- MEDLINE
DCOM- 20000405
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 4
DP  - 1999 Apr
TI  - Different functional outcome of RetGC1 and RPE65 gene mutations in Leber
      congenital amaurosis.
PG  - 1225-8
FAU - Perrault, I
AU  - Perrault I
FAU - Rozet, J M
AU  - Rozet JM
FAU - Ghazi, I
AU  - Ghazi I
FAU - Leowski, C
AU  - Leowski C
FAU - Bonnemaison, M
AU  - Bonnemaison M
FAU - Gerber, S
AU  - Gerber S
FAU - Ducroq, D
AU  - Ducroq D
FAU - Cabot, A
AU  - Cabot A
FAU - Souied, E
AU  - Souied E
FAU - Dufier, J L
AU  - Dufier JL
FAU - Munnich, A
AU  - Munnich A
FAU - Kaplan, J
AU  - Kaplan J
LA  - eng
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Carrier Proteins)
RN  - 0 (Eye Proteins)
RN  - 0 (Proteins)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (guanylate cyclase 1)
RN  - EC 3.1.1.64 (retinoid isomerohydrolase)
RN  - EC 4.6.1.2 (Guanylate Cyclase)
RN  - EC 5.2.- (cis-trans-Isomerases)
SB  - IM
MH  - Blindness/*congenital/*genetics/physiopathology
MH  - Carrier Proteins
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Consanguinity
MH  - Eye Proteins
MH  - Female
MH  - Genetic Linkage/genetics
MH  - Guanylate Cyclase/*genetics
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Mutation/*genetics
MH  - Optic Atrophies, Hereditary/*genetics/physiopathology
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - *Receptors, Cell Surface
MH  - Retinal Cone Photoreceptor Cells/physiopathology
MH  - cis-trans-Isomerases
PMC - PMC1377849
EDAT- 1999/03/26 03:02
MHDA- 2001/07/04 10:01
CRDT- 1999/03/26 03:02
PHST- 1999/03/26 03:02 [pubmed]
PHST- 2001/07/04 10:01 [medline]
PHST- 1999/03/26 03:02 [entrez]
AID - AJHG980955 [pii]
AID - 10.1086/302335 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Apr;64(4):1225-8. doi: 10.1086/302335.