Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

Human Mutation

Volumn 31, Issue 10, 2010, Pages

  Natsuga, Ken ^a   Nishie, Wataru ^a   Shinkuma, Satoru ^a   Arita, Ken ^a   Nakamura, Hideki ^a   Ohyama, Makiko ^b   Osaka, Hitoshi ^b   Kambara, Takeshi ^c   Hirako, Yoshiaki ^d   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

Author keywords

Basement membrane zone; MRNA decay; Skeletal muscle; Truncation

Indexed keywords

PLECTIN; PLEC1 PROTEIN, HUMAN;

ARTICLE; ATRESIA; CODON; CONTROLLED STUDY; DNA POLYMORPHISM; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FIBROBLAST; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; CASE REPORT; CELL CULTURE; CHEMISTRY; CONGENITAL MALFORMATION; DIGESTIVE SYSTEM MALFORMATION; FATALITY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; GENOTYPE; IMMUNOBLOTTING; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; PATHOPHYSIOLOGY; PHENOTYPE; PYLORUS; SKIN;

BASE SEQUENCE; CELLS, CULTURED; DIGESTIVE SYSTEM ABNORMALITIES; EPIDERMOLYSIS BULLOSA SIMPLEX; EXONS; FATAL OUTCOME; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GENOTYPE; HUMANS; IMMUNOBLOTTING; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PLECTIN; PYLORUS; SKIN;

EID: 79952118060     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21330     Document Type: Article

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