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Identification of the gene causing mucolipidosis type IV
Ruth Bargal
, Nili Avidan
, Edna Ben-Asher
, Zvia Olender
, Marcia Zeigler
, Ayala Frumkin
,
Annick Raas-Rothschild
, Gustavo Glusman
, Doron Lancet
, Gideon Bach
*
*
Corresponding author for this work
Hadassah University Medical Centre
Weizmann Institute of Science
Research output
:
Contribution to journal
›
Article
›
peer-review
332
Scopus citations
Overview
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Keyphrases
Mucolipidosis Type IV
100%
Lysosomal Storage Disease
27%
Ashkenazi
18%
Electron Microscopy
9%
Water-soluble
9%
Lipids
9%
Developmental Level
9%
Autosomal Recessive
9%
Ashkenazi Jews
9%
Specific mutation
9%
Strabismus
9%
Chromosomal Region
9%
Haplotype Analysis
9%
Human Chromosomes
9%
Retinal Degeneration
9%
Ophthalmological
9%
Positional Cloning
9%
Over 80
9%
Neurodegenerative
9%
Severely Affected
9%
Single Patient
9%
Metabolic Defects
9%
19p13.2
9%
Gene-rich Regions
9%
Corneal Opacity
9%
Psychomotor Retardation
9%
Mucolipidosis
9%
Medicine and Dentistry
Mucolipidosis Type IV
100%
Haplotype
36%
Lysosomal Storage Disease
27%
Autosomal Recessive Inheritance
9%
Strabismus
9%
Electron Microscopy
9%
Cloning
9%
Human Chromosome
9%
Retina Degeneration
9%
Cornea Opacity
9%
Storage Disease
9%
Psychomotor Retardation
9%
Mucolipidosis
9%
Diseases
9%
Biochemistry, Genetics and Molecular Biology
Mucolipidosis Type IV
100%
Haplotype
36%
Electron Microscopy
9%
Lipid
9%
Autosomal Recessive Inheritance
9%
Human Chromosome
9%
Mucolipidosis
9%
Neuroscience
Mucolipidosis Type IV
100%
Haplotype
36%
Strabismus
9%
Human Chromosome
9%
Electron Microscopy
9%
Retinal Degeneration
9%
Psychomotor Retardation
9%