Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 669-674

  Pulkkinen, Leena ^a,d   Kimonis, Virginia E ^b   Xu, Yili ^a   Spanou, Elena N ^c   McLean, W H Irwin ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; INTEGRIN; ALPHA6 INTEGRIN; LEUKOCYTE ANTIGEN;

ARTICLE; CASE REPORT; CHROMOSOME 2Q; DUODENUM ATRESIA; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE MAPPING; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; RNA SPLICING; BLISTER; CHROMOSOME 2; CHROMOSOME MAP; DUODENUM OBSTRUCTION; GENETICS; HOMOZYGOTE; INTRON; MOLECULAR GENETICS; MUTATION; PEDIGREE; PREGNANCY;

ANTIGENS, CD; BLISTER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DUODENAL OBSTRUCTION; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTEGRIN ALPHA6; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREGNANCY;

EID: 0030611108     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.669     Document Type: Article

References (28)

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