NMNAT1 mutations cause Leber congenital amaurosis

Nature Genetics

Volumn 44, Issue 9, 2012, Pages 1040-1045

  Falk, Marni J ^a   Zhang, Qi ^b   Nakamaru Ogiso, Eiko ^a   Kannabiran, Chitra ^c   Fonseca Kelly, Zoe ^b   Chakarova, Christina ^d   Audo, Isabelle ^e,f,g   MacKay, Donna S ^d   Zeitz, Christina ^e,f,g   Borman, Arundhati Dev ^d,h   Staniszewska, Magdalena ^b   Shukla, Rachna ^c   Palavalli, Lakshmi ^c   Mohand Said, Saddek ^e,f,g   Waseem, Naushin H ^d   Jalali, Subhadra ^c,i   Perin, Juan C ^j   Place, Emily ^a,b   Ostrovsky, Julian ^a   Xiao, Rui ^a   Bhattacharya, Shomi S ^d,k   Consugar, Mark ^b   Webster, Andrew R ^d,h   Sahel, José Alain ^e,f,g,l,m   Moore, Anthony T ^d,h,n   Berson, Eliot L ^b   Liu, Qin ^b   Gai, Xiaowu ^o   Pierce, Eric A ^b   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c L V PRASAD EYE INSTITUTE   (India)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e INSERM   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g CNRS   (France)

^h MOORFIELDS EYE HOSPITAL   (United Kingdom)

ⁱ Kallam Anji Reddy Campus   (India)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

^l FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^m Académie des Sciences Institut de France Paris   (France)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o LOYOLA UNIVERSITY CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINAMIDE ADENINE DINUCLEOTIDE; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE;

ARTICLE; BIOSYNTHESIS; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; EXOME; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEBER CONGENITAL AMAUROSIS; MALE; MISSENSE MUTATION; NMNAT1 GENE; PAKISTAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; PEDIGREE; RETINAL DEGENERATION;

EID: 84865677702     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2361     Document Type: Article

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