Mutational analysis and clinical correlation in Leber congenital amaurosis

Ophthalmic Genetics

Volumn 21, Issue 3, 2000, Pages 135-150

  Dharmaraj, S ^a   Silva, E ^a   Pina, A L ^a   Li, Y Y ^a   Yang, J M ^a   Carter, R C ^a   El Hilali, H ^a   Traboulsi, E ^a   Sundin, O ^a   Zhu, D ^a   Koenekoop, R K ^a   Maumenee, I H ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

Heterogeneity; Leber congenital amaurosis; Mutations; Phenotype genotype correlation

Indexed keywords

CELL PROTEIN; GUANYLATE CYCLASE; RETINA PIGMENT EPITHELIUM PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HOMEOBOX; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEBER CONGENITAL AMAUROSIS; MOLECULAR EVOLUTION; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; VISUAL IMPAIRMENT;

EID: 0033747042     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200009)21:3;1-z;ft135     Document Type: Article

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