A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex [2]

Journal of Investigative Dermatology

Volumn 124, Issue 1, 2005, Pages 272-274

  Indelman, Margarita ^a   Bergman, Reuven ^a   Sprecher, Eli ^a  

^a RAMBAM MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; GENOMIC DNA;

ANAMNESIS; ARAB; AUTOSOMAL DOMINANT INHERITANCE; BLISTER; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC HETEROGENEITY; HUMAN; ISRAEL; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE;

EID: 11944252343     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23555.x     Document Type: Letter

References (13)

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