Identification of the gene causing mucolipidosis type IV

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 118-121

  Bargal, Ruth ^a   Avidan, Nili ^b   Ben Asher, Edna ^b   Olender, Zvia ^b   Zeigler, Marcia ^a   Frumkin, Ayala ^a   Raas Rothschild, Annick ^a   Glusman, Gustavo ^b   Lancet, Doron ^b   Bach, Gideon ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA OPACITY; DEGENERATIVE DISEASE; GENE MAPPING; HUMAN; MUCOLIPIDOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETINA DEGENERATION; STRABISMUS;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; CLONING, MOLECULAR; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; EXONS; EXPRESSED SEQUENCE TAGS; FEMALE; GENE DELETION; GENES, RECESSIVE; GENETIC MARKERS; HAPLOTYPES; HUMANS; MALE; MEMBRANE PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUCOLIPIDOSES; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RESTRICTION MAPPING; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; TRPM CATION CHANNELS;

EID: 0033822172     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79095     Document Type: Article

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