A Recurrent Homozygous Nonsense Mutation within the LAMA3 Gene as a Cause of Herlitz Junctional Epidermolysis Bullosa in Patients of Pakistani Ancestry: Evidence for a Founder Effect

Journal of Investigative Dermatology

Volumn 106, Issue 4, 1996, Pages 781-784

  McGrath, John A ^a   Kivirikko, Sirpa ^a   Ciatti, Sabatino ^a   Moss, Celia ^b   Christiano, Angela M ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Cutaneous basement membrane zone; Functional epidermolysis bullosa; Genodermatoses; Laminin 5 gene mutations

Indexed keywords

KALININ;

ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; HUMAN; HUMAN TISSUE; INFANT; MALE; NONSENSE MUTATION; PRIORITY JOURNAL;

BASE SEQUENCE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HAPLOTYPES; HUMANS; INFANT; LAMININ; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; POLYMORPHISM, GENETIC;

EID: 0029670321     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12346349     Document Type: Article

References (14)

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