Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1

JAMA Ophthalmology

Volumn 132, Issue 8, 2014, Pages 1002-1004

  Siemiatkowska, Anna M ^a,b   Schuurs Hoeijmakers, Janneke H M ^a,b   Bosch, Danielle G M ^a,c   Boonstra, F Nienke ^c,d   Riemslag, Frans C C ^c,e   Ruiter, Mariken ^a   De Vries, Bert B A ^a,b,d   Den Hollander, Anneke I ^a,b   Collin, Rob W J ^a,b   Cremers, Frans P M ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Bartimeus Institute for the Visually Impaired   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; EUROPEAN AMERICAN; EXOME; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEBER CONGENITAL AMAUROSIS; NMNAT1 GENE; PENETRANCE; PRIORITY JOURNAL;

HUMANS; LEBER CONGENITAL AMAUROSIS; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE;

EID: 84907365915     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.983     Document Type: Article

References (12)

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