Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Journal of the American Academy of Dermatology

Volumn 57, Issue 3, 2007, Pages 407-412

  Molho Pessach, Vered ^a   Bargal, Ruth ^b   Abramowitz, Yigal ^c   Doviner, Victoria ^d   Ingber, Arieh ^a   Raas Rothschild, Annick ^b   Ne'eman, Zvi ^d   Zeigler, Marsha ^b   Zlotogorski, Abraham ^a  

^a UNIVERSITY OF LA LAGUNA

^b Human Genetics ^*

^c Internal Medicine

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; NUCLEOTIDE;

ADULT; ARAB; ARTICLE; BETA MANNOSIDOSIS; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DNA DETERMINATION; DNA SEQUENCE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME BLOOD LEVEL; FABRY DISEASE; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENOME ANALYSIS; HISTOPATHOLOGY; HUMAN; MANBA GENE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STOP CODON; ULTRASTRUCTURE;

ADENINE; ADULT; ARABS; BASE SEQUENCE; BETA-MANNOSIDASE; BETA-MANNOSIDOSIS; CODON, NONSENSE; CODON, TERMINATOR; CYTOPLASM; EXONS; FABRY DISEASE; FEMALE; GUANINE; HUMANS; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; SKIN; VACUOLES;

EID: 34547828748     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2007.01.037     Document Type: Article

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