Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa

Acta Dermato-Venereologica

Volumn 92, Issue 6, 2012, Pages 695-696

  Yuen, Wing Yan ^a   Pasmooij, Anna M G ^a   Stellingsma, Cornelis ^a   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; CASE REPORT; DNA EXTRACTION; ENAMEL HYPOPLASIA; EPIDERMOLYSIS BULLOSA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; LAMA3 GENE; LETTER; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; AMELOGENESIS; DENTAL ENAMEL; DENTAL ENAMEL HYPOPLASIA; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HUMANS; LAMININ; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84867539422     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1341     Document Type: Letter

References (10)

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