The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Journal of Dermatological Science

Volumn 53, Issue 3, 2009, Pages 222-225

  Drera, B ^a   Ritelli, M ^a   Tadini, G ^b   Zoppi, N ^a   Venturini, M ^a   Calzavara Pinton, P G ^a   Barlati, S ^a   Colombi, M ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Cartilage matrix protein subdomain; COL7A1 gene; Dystrophic epidermolysis bullosa; Splicing mutation; Type VII collagen

Indexed keywords

COLLAGEN TYPE 7; MATRIX PROTEIN;

ADULT; CASE REPORT; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ADULT; BASE SEQUENCE; COLLAGEN TYPE VII; DNA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; GLYCOPROTEINS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 58949086634     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.09.005     Document Type: Letter

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