A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene

British Journal of Dermatology

Volumn 155, Issue 4, 2006, Pages 838-840

  Suzuki, S ^a   Shimomura, Y ^a   Yamamoto, Y ^a   Kariya, N ^a   Shibuya, M ^b   Ito, M ^a   Fujiwara, H ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b NIIGATA CITY GENERAL HOSPITAL   (Japan)

Author keywords

Compound heterozygosity; Glycine substitution; Non Hallopeau Siemens variant; Nonsense mutation; Recessive dystrophic epidermolysis bullosa

Indexed keywords

GENOMIC DNA;

ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; COL7A1 GENE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

BASE SEQUENCE; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION;

EID: 33748454476     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07397.x     Document Type: Article

References (8)

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