Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology

Volumn 106, Issue 5, 1996, Pages 1157-1159

  McGrath, John A ^a   Christiano, Angela M ^a   Pulkkinen, Leena ^a,c   Eady, Robin A J ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

Anchoring filaments; Laminin 5

Indexed keywords

LAMININ;

AGED; ALLELE; ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INFANT; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

AGED; ALLELES; BASE SEQUENCE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LAMININ; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030138012     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12340210     Document Type: Article

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