A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
Chen
M A
MA
Department of Dermatology, San Francisco General Hospital, University of California 94110.
Bonifas
J M
JM
Matsumura
K
K
Blumenfeld
A
A
Epstein
E H
EH
D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005091:Exons; D005971:Glutamates; D018698:Glutamic Acid; D006801:Humans; D007438:Introns; D007633:Keratins / Q000737:chemistry* / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D017384:Sequence Deletion
D017931:DNA Primers; D005971:Glutamates; D018698:Glutamic Acid; D007633:Keratins