Junctional epidermolysis bullosa gravis (Herlitz): Diagnostic and genetic aspects

Journal of the European Academy of Dermatology and Venereology

Volumn 15, Issue 1, 2001, Pages 73-76

  Hauschild, R ^a   Wollina, U ^a   Bruckner Tuderman, L ^b  

^a FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Junctional epidermolysis bullosa gravis (Herlitz type) JEBH (OMIM 226700); Mutations; Uniparental disomy

Indexed keywords

DEOXYRIBONUCLEOTIDE; DNA; GENE PRODUCT; GUANINE; HETERODUPLEX; LAMININ; MESSENGER RNA;

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CLINICAL EXAMINATION; EPIDERMOLYSIS BULLOSA; EXON; FAMILY HISTORY; FETUS CELL; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; INFANT; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN SYNTHESIS;

EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HUMANS; INFANT, NEWBORN; MALE;

EID: 0034854901     PISSN: 09269959     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-3083.2001.00215.x     Document Type: Article

References (14)

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3. Junctional epidermolysis bullosa: Diagnosis and management of a patient with the Herlitz variant
4. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis
5. Genetic basis of lethal junctional epidermolysis bullosa in a affected fetus: Implications for prenatal diagnosis in one family
6. Treatment of epidermolysis bullosa with human cultured epidermal allografts
7. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
8. Uniparental disomies in unselected populations
9. Prenatal diagnosis of junctional epidermolysis bullosa Herlitz type
10. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence
11. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antropyloric atresia: A new variant of junctional epidermolysis bullosa?
12. Splicing modulation of integrin β4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
13. Pain management of junctional epidermolysis bullosa in an 11-year-old boy
14. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia