DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa

Clinical and Experimental Dermatology

Volumn 26, Issue 2, 2001, Pages 205-207

  Cserhalmi Friedman, P B ^a   Yeboa, K A ^a   Christiano, A M ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ;

ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DELETION; HUMAN; INTENSIVE CARE; NEWBORN; PRIORITY JOURNAL; SKIN BIOPSY;

CELL ADHESION MOLECULES; CODON, NONSENSE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; GENE DELETION; HUMANS; INFANT, NEWBORN; SEQUENCE ANALYSIS, DNA;

EID: 0035061311     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2001.00797.x     Document Type: Article

References (9)

1. Mutation analysis and molecular genetics of epidermolysis bullosa
2. Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6 beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes
3. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
4. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
5. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
6. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the α2 subunit of nicein/kalinin (laminin-5)
7. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
8. Human gene mutations affecting RNA processing and translation
9. Detection of sequence variants in the gene encoding the α3 chain of laminin 5 (LAMB3) by heteroduplex analysis of PCR amplified segments