Characterization of mutations in Gaucher patients by cDNA cloning.

Mutated cDNA clones containing the entire coding sequence of human glucocerebrosidase were isolated from libraries originated from Gaucher patients. Sequence analysis of a mutated cDNA derived from a type II Gaucher patient revealed a C-to-G transversion causing a substitution of an arginine for a p...

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Bibliographic Details
Main Authors: Wigderson, M, Firon, N, Horowitz, Z, Wilder, S, Frishberg, Y, Reiner, O, Horowitz, M
Format: Artigo
Language:Inglês
Published: 1989
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715434/
https://ncbi.nlm.nih.gov/pubmed/2464926
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