Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Nature Genetics

Volumn 44, Issue 9, 2012, Pages 1035-1039

  Koenekoop, Robert K ^a   Wang, Hui ^b   Majewski, Jacek ^c   Wang, Xia ^b   Lopez, Irma ^a   Ren, Huanan ^a   Chen, Yiyun ^b   Li, Yumei ^b   Fishman, Gerald A ^d   Genead, Mohammed ^d   Schwartzentruber, Jeremy ^c   Solanki, Naimesh ^b   Traboulsi, Elias I ^e   Cheng, Jingliang ^b   Logan, Clare V ^f   McKibbin, Martin ^g   Hayward, Bruce E ^f   Parry, David A ^f   Johnson, Colin A ^f   Nageeb, Mohammed ^a   Poulter, James A ^f   Mohamed, Moin D ^h   Jafri, Hussain ⁱ   Rashid, Yasmin ^j   Taylor, Graham R ^f   Keser, Vafa ^a   Mardon, Graeme ^b   Xu, Huidan ^b   Inglehearn, Chris F ^f   Fu, Qing ^a,k   Toomes, Carmel ^f   Chen, Rui ^b   more..

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d Chicago Lighthouse for People Who Are Blind or Visually Impaired   (United States)

^e LERNER RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF LEEDS   (United Kingdom)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h ST THOMAS HOSPITAL   (United Kingdom)

ⁱ Gene Tech Lab   (Pakistan)

^j KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^k SECOND MILITARY MEDICAL UNIVERSITY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE 1; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; COLOBOMA; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SYNTHESIS; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LEBER CONGENITAL AMAUROSIS; NERVE DEGENERATION; NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE 1 GENE; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; RETINA DEGENERATION; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MIDDLE AGED; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; PEDIGREE; RETINAL DEGENERATION; SIGNAL TRANSDUCTION; YOUNG ADULT;

WALLERIA;

EID: 84865686525     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2356     Document Type: Article

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