Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Gene

Volumn 498, Issue 2, 2012, Pages 183-195

  Majer, F ^a   Vlaskova, H ^a   Krol, L ^b   Kalina, T ^b   Kubanek, M ^c   Stolnaya, L ^a   Dvorakova, L ^a   Elleder, M ^a   Sikora, J ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

Author keywords

Cardiomyopathy; Danon disease; Lysosomal associated membrane protein 2; Polychromatic flow cytometry; White blood cells; X chromosome inactivation

Indexed keywords

CD14 ANTIGEN; CD20 ANTIGEN; CD3 ANTIBODY; CD56 ANTIGEN; GREEN FLUORESCENT PROTEIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CONTROLLED STUDY; CULTURE MEDIUM; DANON DISEASE; ENDOSOME; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GRANULOCYTE; HEART MUSCLE CELL; HEART PREEXCITATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOHISTOCHEMISTRY; LEUKOCYTE; LYSOSOME; MALE; MUSCLE BIOPSY; MYOPIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TARGETING; QUALITATIVE ANALYSIS; SEQUENCE ANALYSIS; SKIN FIBROBLAST; X CHROMOSOME INACTIVATION;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; FEMALE; FIBROBLASTS; FLOW CYTOMETRY; GLYCOGEN STORAGE DISEASE TYPE IIB; HETEROZYGOTE; HUMANS; LEUKOCYTES; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MUTATION; MYOCARDIUM; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84858751035     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.02.004     Document Type: Article

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