Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Human Mutation

Volumn 12, Issue 4, 1998, Pages 240-244

  Horowitz, Mia ^a   Pasmanik Chor, Metsada ^a   Borochowitz, Zvi ^b   Falik Zaccai, Tzipora ^b   Heldmann, Keren ^b   Carmi, Rivka ^c   Parvari, Ruth ^c   Beit Or, Hannah ^c   Goldman, Boleslav ^d   Peleg, Lea ^d   Levy Lahad, Ephrat ^e   Renbaum, Paul ^e   Legum, Searl ^f   Shomrat, Ruth ^f   Yeger, Hannah ^f   Benbenisti, Dalit ^f   Navon, Ruth ^g   Dror, Vardit ^g   Shohat, Mordechai ^h   Magal, Nurit ^h   Navot, Nir ⁱ   Eyal, Nurit ⁱ   more..

^a TEL AVIV UNIVERSITY   (Israel)

^b BNAI ZION MEDICAL CENTER   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d SHEBA MEDICAL CENTER   (Israel)

^e SHAARE ZEDEK MEDICAL CENTER   (Israel)

^f Ichilov Medical Center   (Israel)

^g MEIR MEDICAL CENTER   (Israel)

^h RABIN MEDICAL CENTER   (Israel)

ⁱ GamidaGen Ltd   (Israel)

Author keywords

Ashkenazi Jews; Detection kit; Gaucher disease; Glucocerebrosidase; Mutations

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; DNA DETERMINATION; ENZYME ACTIVITY; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; ISRAEL; JEW; LIPID METABOLISM; PENETRANCE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; RETICULOENDOTHELIAL SYSTEM;

CELLS, CULTURED; FEMALE; FIBROBLASTS; GAUCHER DISEASE; GENE FREQUENCY; GENETIC SCREENING; GLUCOSYLCERAMIDASE; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; JEWS; MALE; MOLECULAR PROBE TECHNIQUES; MUTATION; PENETRANCE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 7344232563     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J     Document Type: Article

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