Familial cutaneous collagenomas resulting from a novel mutation in LEMD3

British Journal of Dermatology

Volumn 156, Issue 2, 2007, Pages 375-377

  Hershkovitz, D ^a   Amitai, D B ^b   Sprecher, E ^a,c  

^a Laboratory of Molecular Dermatology   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Buschke Ollendorff; Collagenoma; LEMD3; Mutation

Indexed keywords

COLLAGEN; GENOMIC DNA; MESSENGER RNA;

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CLINICAL FEATURE; COLLAGEN DISEASE; ELASTIC FIBER; EXON; FAMILIAL CUTANEOUS COLLAGENOMA; GENE; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRON; JEW; LEMD3 GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAPULE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN DISEASE; SKIN NODULE; WILD TYPE;

CHROMOSOME DISORDERS; COLLAGEN DISEASES; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE;

EID: 33846239369     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07651.x     Document Type: Article

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