Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa

Biochemical and Biophysical Research Communications

Volumn 243, Issue 3, 1998, Pages 758-764

  Posteraro, P ^a   Sorvillo, S ^a   Gagnoux Palacios, L ^b   Angelo, C ^a   Paradisi, M ^a   Meneguzzi, G ^b   Castiglia, D ^a   Zambruno, G ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; KALININ; LAMININ; LYSINE; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; CELL ADHESION; CODON; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; EPITHELIUM CELL; EXON; EXTRACHROMOSOMAL INHERITANCE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; MALE; MUCOSA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; RNA SPLICING; RNA TRANSCRIPTION; STOP CODON;

EID: 0032562076     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1998.8180     Document Type: Article

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