Mutation analysis in the family of a Taiwanese boy with with epidermolysis bullosa simplex Dowling-Meara

Journal of the Formosan Medical Association

Volumn 100, Issue 6, 2001, Pages 407-411

  Ning, C C ^a   Chao, S C ^a   Uitto, J ^a   Shieh, C C ^a   Yu Yun Lee, J ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Basal cell cytolysis; Epidermolysis bullosa simplex; Herpetiformis; Mutation analysis; Tonofilaments

Indexed keywords

CYTOKERATIN 14; KERATIN; KERATIN 5; UNCLASSIFIED DRUG;

ARTICLE; BASAL CELL; BIOPSY; BLEEDING; BULLOUS SKIN DISEASE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EOSINOPHIL; EPIDERMOLYSIS BULLOSA SIMPLEX; EROSION; FAMILY; GENETIC ANALYSIS; GENETIC DISORDER; HARD PALATE; HETEROZYGOSITY; HUMAN; KERATINOCYTE; KERATOSIS PALMOPLANTARIS; MALE; MECHANICAL STRESS; NAIL DYSTROPHY; NEUTROPHIL; NEWBORN; PEDIGREE; POINT MUTATION; PRENATAL DIAGNOSIS; SKIN PIGMENTATION; TAIWAN; TONOFILAMENT; TRUNK;

DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; HUMANS; INFANT, NEWBORN; KERATINS; MALE; PEDIGREE; POINT MUTATION; SKIN;

EID: 0034926149     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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