Different phenotypic expression in relatives with fabry disease caused by a W226X mutation

American Journal of Medical Genetics

Volumn 82, Issue 5, 1999, Pages 436-439

  Knol, I E ^a   Ausems, M G E M ^a   Lindhout, D ^b   Van Diggelen, O P ^b   Verwey, H ^c   Davies, J ^d   Ploos Van Amstel, J K ^a   Poll The, B T ^e  

^a Clinical Genetics Center Utrecht   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c Oosterschelde Hospital   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

galactosidase A enzyme; Fabry disease; Gastro intestinal manifestations; Genotype phenotype correlation

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID; GROWTH HORMONE; HYDROLASE;

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CELIAC DISEASE; DELAYED PUBERTY; DIAGNOSTIC ERROR; DISEASE CLASSIFICATION; DNA DETERMINATION; ENZYME ACTIVITY; FABRY DISEASE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; CHILD; DIAGNOSIS, DIFFERENTIAL; EYE ABNORMALITIES; FABRY DISEASE; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; X CHROMOSOME;

EID: 0033582557     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990219)82:5<436::AID-AJMG14>3.0.CO;2-X     Document Type: Article

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