Progress in epidermolysis bullosa: Genetic classification and clinical implications

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 131 C, Issue 1, 2004, Pages 61-74

  Uitto, Jouni ^a,b   Richard, Gabriele ^a,c  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c Dept Dermatol Cutaneous Biol G ^*

Author keywords

Blistering disorders; Cutaneous basement membrane zone; DNA based prenatal diagnosis; Heritable skin diseases

Indexed keywords

BLISTER; CLINICAL EXAMINATION; CLINICAL FEATURE; CLINICAL GENETICS; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC TRAIT; HUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGNOSIS; REVIEW;

BASEMENT MEMBRANE; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; GENOTYPE; HUMANS; KERATINS; MODELS, BIOLOGICAL; MUTATION; PHENOTYPE;

EID: 7444248879     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30035     Document Type: Review

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