Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Human Molecular Genetics

Volumn 24, Issue 13, 2015, Pages 3742-3751

  Haer Wigman, Lonneke ^a,b   Newman, Hadas ^c   Leibu, Rina ^d   Bax, Nathalie M ^a   Baris, Hagit N ^e,f   Rizel, Leah ^f   Banin, Eyal ^g   Massarweh, Amir ^f   Roosing, Susanne ^a,b   Lefeber, Dirk J ^a,b   Zonneveld Vrieling, Marijke N ^b   Isakov, Ofer ^h   Shomron, Noam ^h   Sharon, Dror ^g   Den hollander, Anneke I ^a,b   Hoyng, Carel B ^a   Cremers, Frans P M ^a,b   Ben Yosef, Tamar ^f  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d Alberto Moscona Department of Ophthalmology   (Israel)

^e Rambam Health Care Campus   (Israel)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^h TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; GLUCOSAMINE DERIVATIVE; HEPARAN; HEPARAN ALPHA GLUCOSAMINIDE N ACETYLTRANSFERASE; UNCLASSIFIED DRUG; HGSNAT PROTEIN, HUMAN;

ADULT; AGED; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; MIDDLE AGED; MOUSE; NONHUMAN; PRIORITY JOURNAL; RETINA; RETINITIS PIGMENTOSA; SANFILIPPO SYNDROME; SEQUENCE ANALYSIS; ANIMAL; ASYMPTOMATIC DISEASE; C57BL MOUSE; ENZYMOLOGY; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION;

ACETYLTRANSFERASES; ADULT; AGED; ANIMALS; ASYMPTOMATIC DISEASES; BASE SEQUENCE; EXONS; FEMALE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS III; PEDIGREE; POINT MUTATION; RETINA; RETINITIS PIGMENTOSA;

EID: 84936774930     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv118     Document Type: Article

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