Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and Mon-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Human Mutation

Volumn 17, Issue 5, 2001, Pages 397-402

  Bargal, Ruth ^a,b,c   Avidan, Nili ^a,b   Olender, Tzvia ^a   Asher, Edna Ben ^a   Zeigler, Marcia ^a   Raas Rothschild, Annick ^a,b,c   Frumkin, Ayala ^a   Ben Yoseph, Omer ^a   Friedlender, Yechiel ^a,c   Lancet, Doron ^a,b,c   Bach, Gideon ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

Ashkenazim; Disease frequency; Genotype phenotype correlation; MCOLN1; MLIV; Mucolipidosis type IV

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; JEW; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

CODON, NONSENSE; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FOUNDER EFFECT; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HAPLOTYPES; HETEROZYGOTE; HUMANS; JEWS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUCOLIPIDOSES; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; TRPM CATION CHANNELS;

EID: 0035032399     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1115     Document Type: Article

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