Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients

Human Mutation

Volumn 7, Issue 3, 1996, Pages 272-274

  Cormand, Bru ^a   Vilageliu, Lluïsa ^a   Balcells, Susana ^a   Gonzàlez Duarte, Roser ^a   Chabás, Amparo ^b   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; GAUCHER DISEASE; GENE MUTATION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; LIPIDOSIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0029919781     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:3<272::aid-humu14>3.0.co;2-%23     Document Type: Article

References (16)

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