Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)

Investigative Ophthalmology and Visual Science

Volumn 42, Issue 6, 2001, Pages 1190-1192

  Rozet, J M ^a   Perrault, I ^a   Gerber, S ^a   Hanein, S ^a   Barbet, F ^a   Ducroq, D ^a   Souied, E ^a   Munnich, A ^a   Kaplan, J ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; GUANOSINE TRIPHOSPHATE; GUANYLATE CYCLASE;

ARTICLE; CATALYSIS; CHROMOSOME 17P; ENZYME ACTIVITY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ANIMALS; BLINDNESS; CHROMOSOMES, HUMAN, PAIR 17; COS CELLS; CYCLIC GMP; DNA MUTATIONAL ANALYSIS; GUANOSINE TRIPHOSPHATE; GUANYLATE CYCLASE; HUMANS; HYDROLYSIS; LINKAGE (GENETICS); MUTATION, MISSENSE; OPTIC ATROPHIES, HEREDITARY; RECEPTORS, CELL SURFACE; ROD OUTER SEGMENTS;

EID: 0035034371     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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