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Hum Mutat. 2001 Apr;17(4):353.

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

Author information

1
Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr
PMID:
11295840
DOI:
10.1002/humu.41
[Indexed for MEDLINE]

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