Molecular heterogeneity of epidermolysis bullosa simplex: Contribution of exph5 mutations

Journal of Investigative Dermatology

Volumn 134, Issue 3, 2014, Pages 842-845

  Pigors, Manuela ^a   Schwieger Briel, Agnes ^a   Leppert, Juna ^a   Kiritsi, Dimitra ^a   Kohlhase, Jürgen ^b   Bruckner Tuderman, Leena ^a,b   Has, Cristina ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; EXOPHILIN 5 PROTEIN; GENOMIC DNA; UNCLASSIFIED DRUG; EXOPHILIN 5; PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DNA EXTRACTION; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; MOLECULAR BIOLOGY; MORPHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN BIOPSY; SKIN FRAGILITY; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BIOPSY; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE;

EID: 84894105730     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.373     Document Type: Letter

References (12)

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