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Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

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P-000-CVN

Author(s)

Hanein, S

Perrault, I

Gerber, S

Tanguy, G

Barbet, F

Ducroq, D

Calvas, P

Dollfus, H

Hamel, C

Lopponen, T

Munier, F

Santos, L

Shalev, S

Zafeiriou, D

Dufier, JL

Munnich, A

Rozet, JM

Kaplan, J

Document Type

Article

Year published

2004

Published

in HUMAN MUTATION, ISSN: 1059-7794

Volume: 23, Issue: 4, Pages: 306-317 (12)

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Publication Identifiers

DOI: 10.1002/humu.20010

Pubmed: 15024725

Scopus: 2-s2.0-11144356431

Wos: WOS:000220471700003

Source Identifiers

ISSN: 1059-7794

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Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

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Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

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