Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Human Molecular Genetics

Volumn 25, Issue 8, 2016, Pages 1479-1488

  Xu, Mingchu ^a   Yamada, Takeyuki ^b   Sun, Zixi ^c   Eblimit, Aiden ^a   Lopez, Irma ^d   Wang, Feng ^a   Manya, Hiroshi ^b   Xu, Shan ^a   Zhao, Li ^a   Li, Yumei ^a   Kimchi, Adva ^e   Sharon, Dror ^e   Sui, Ruifang ^c   Endo, Tamao ^b   Koenekoop, Robert K ^d   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Tokyo Metropolitan Institute of Gerontology   (Japan)

^c PEKING UNION MEDICAL COLLEGE   (China)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN O LINKED MANNOSE BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE 1; UNCLASSIFIED DRUG; PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYMATIC ASSAY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; KINETOSOME; MALE; MANNOSYLATION; MIDDLE AGED; MISSENSE MUTATION; NON SYNDROMIC RETINITIS PIGMENTOSA; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MODIFICATION; RETINA BLOOD VESSEL; RETINITIS PIGMENTOSA; ANIMAL; CELL CULTURE; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; GLYCOSYLATION; METABOLISM; MOUSE; MUTATION; PATHOLOGY; PEDIGREE; PROCEDURES; RECESSIVE GENE;

ADULT; AGED; ANIMALS; CELLS, CULTURED; EXOME; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PHOTORECEPTOR CELLS, VERTEBRATE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84963739524     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw022     Document Type: Article

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