Herlitz junctional epidermolysis bullosa: Laminin-5 mutational profile and carrier frequency in the Italian population

British Journal of Dermatology

Volumn 158, Issue 1, 2008, Pages 38-44

  Castori, M ^a   Floriddia, G ^a   De Luca, N ^a   Pascucci, M ^a   Ghirri, P ^b   Boccaletti, V ^c   El Hachem, M ^d   Zambruno, G ^a   Castiglia, D ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Carrier frequency; Epidermolysis bullosa; Herlitz disease; Laminin 5 genes; Mutation detection

Indexed keywords

KALININ;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPITOPE MAPPING; GENE; GENOTYPE; HEREDITY; HUMAN; INFANT; ITALY; LAMA3 GENE; LAMC2 GENE; MORBIDITY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY;

BASE SEQUENCE; CELL ADHESION MOLECULES; CHILD; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; EPITOPE MAPPING; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; ITALY; MALE; MUTATION; REGISTRIES;

EID: 36849006885     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08208.x     Document Type: Article

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