The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.

Human mutation

Volumn 26, Issue 6, 2005, Pages 591-

  Bach, Gideon ^a   Webb, Michael B T ^a   Bargal, Ruth ^a   Zeigler, Marcia ^a   Ekstein, Joseph ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MCOLN1 PROTEIN, HUMAN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M;

ARTICLE; ETHNOLOGY; EUROPE; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; ISRAEL; JEW; MISSENSE MUTATION; MUCOLIPIDOSIS; NUCLEOTIDE SEQUENCE; STOP CODON;

BASE SEQUENCE; CODON, NONSENSE; EUROPE; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE; HUMANS; ISRAEL; JEWS; MUCOLIPIDOSES; MUTATION, MISSENSE; SEQUENCE DELETION; TRPM CATION CHANNELS;

EID: 33744996034     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9385     Document Type: Article

References (0)