A novel α-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease

American Journal of Kidney Diseases

Volumn 44, Issue 5, 2004, Pages

  Rosenthal, David ^a   Lien, Yeong Hau H ^b   Lager, Donna ^a   Lai, Li Wen ^b   Shang, Shuhua ^b   Leung, Nelson ^a   Fervenza, Fernando C ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

Author keywords

Fabry disease; genotype; mutation analysis; phenotype; galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE; IOTALAMIC ACID; LEUCINE; METHIONINE; MUTANT PROTEIN;

AGED; ANAMNESIS; CASE REPORT; CREATININE BLOOD LEVEL; EUKARYOTE; EXON; FABRY DISEASE; GENOTYPE; HUMAN; HYDROPHOBICITY; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION; KIDNEY GRAFT; KIDNEY TRANSPLANTATION; LEUKOCYTE; MALE; MISSENSE MUTATION; PROTEINURIA; REVIEW;

EID: 7444265245     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2004.07.018     Document Type: Article

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