Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S

Gene

Volumn 538, Issue 1, 2014, Pages 84-87

  Jack, Alexandria ^a   Amato, Dominick ^b   Morris, Geoffrey ^a   Choy, Francis Y M ^a  

^a UNIVERSITY OF VICTORIA   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Compound heterozygosity; Gaucher disease; Novel mutations; Null allele; RFLP analysis; Sphingolipidosis

Indexed keywords

COMPOUND HETEROZYGOSITY; GAUCHER DISEASE; NOVEL MUTATIONS; NULL ALLELE; RFLP ANALYSIS; SPHINGOLIPIDOSIS;

ADULT; CHILD; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; MALE; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 84893786952     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.01.015     Document Type: Article

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