A common and two novel GBA mutations in Thai patients with Gaucher disease

Journal of Human Genetics

Volumn 58, Issue 9, 2013, Pages 594-599

  Tammachote, Rachaneekorn ^a   Tongkobpetch, Siraprapa ^a   Srichomthong, Chalurmpon ^b   Phipatthanananti, Kampon ^a   Pungkanon, Suthipong ^c   Wattanasirichaigoon, Duangrurdee ^d   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^c QUEEN SIRIKIT NATIONAL INSTITUTE OF CHILD HEALTH   (Thailand)

^d MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Gaucher disease; GBA; Mutation spectrum; Termination codon mutation

Indexed keywords

RESTRICTION ENDONUCLEASE;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CODING; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GAUCHER DISEASE; GENE; HAPLOTYPE; HUMAN; LIVER FAILURE; MALE; MUTANT; MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; SEPSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HAPLOTYPES; HUMANS; MALE; MUTATION;

EID: 84886704370     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.60     Document Type: Article

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