A keratin K5 mutation (Leu 463 → Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex

Archives of Dermatological Research

Volumn 289, Issue 8, 1997, Pages 493-495

  Nomura, K ^a,c   Umeki, K ^a   Meng, X ^a   Tamai, K ^a   Sawamura, D ^a   Hosokawa, M ^b   Miyazawa, T ^b   Funayama, M ^b   Hashimoto, I ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b Sendai Teishin Hospital   (Japan)

^c AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

Author keywords

Epidermolysis bullosa simplex; Keratin K5; Weber Cockayne

Indexed keywords

KERATIN; LEUCINE; PROLINE;

AMINO ACID SUBSTITUTION; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENE ISOLATION; GENE MUTATION; HUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATINS; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION;

EID: 0030865673     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030050228     Document Type: Article

References (12)

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