Work

Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

Year: 1998

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/301969

Authors: Dominique P. Germain, Jean-Philippe Puech, Catherine Caillaud, Axel Kahn, Livia Poenaru

Institutions: Inserm, Hôpital Cochin, Institut Cochin, Université Paris Descartes

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2048731604

FWCI: 1.606

Cites: 60

Cited by: 42

Related to: 10