Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation

American Journal of Ophthalmology

Volumn 143, Issue 4, 2007, Pages

  Dobrovolny, Robert ^a   Liskova, Petra ^b   Ledvinova, Jana ^a   Poupetova, Helena ^a   Asfaw, Befekadu ^a   Filipec, Martin ^a,b,d   Jirsova, Katerina ^a,b   Kraus, Josef ^c   Elleder, Milan ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d Eye Clinic Lexum   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; ARTICLE; AUTOFLUORESCENCE; CASE REPORT; CONJUNCTIVA; CORNEA DISEASE; CORNEA EPITHELIUM; DISEASE COURSE; DISEASE SEVERITY; EXON; EYE EXAMINATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; LYSOSOME; MCOLN1 GENE; MUCOLIPIDOSIS; MUCOLIPIDOSIS IV; NEUROLOGIC EXAMINATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SKIN; SKIN FIBROBLAST; SYMPTOMATOLOGY; ULTRASTRUCTURE; VASCULAR ENDOTHELIUM; VISUAL ACUITY; VISUAL IMPAIRMENT;

EID: 33947357140     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2006.11.049     Document Type: Article

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