Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa

American Journal of Human Genetics

Volumn 60, Issue 2, 1997, Pages 352-365

  Gatalica, Biljana ^a   Pulkkinen, Leena ^a   Li, Kehua ^a   Kuokkanen, Kirsti ^b   Ryynänen, Markku ^c   McGrath, John A ^a,d   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL;

ALLELE; ARTICLE; CHROMOSOME 10; DERMOEPIDERMAL JUNCTION; DNA FLANKING REGION; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; PRIORITY JOURNAL; SKIN ATROPHY; STOP CODON;

ADOLESCENT; ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CLONING, MOLECULAR; CODON; COLLAGEN; DNA PRIMERS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; EXONS; FEMALE; FINLAND; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INTRONS; MALE; MUTATION; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 0031019014     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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