A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome

British Journal of Dermatology

Volumn 158, Issue 6, 2008, Pages 1375-1377

  Kacar N ^a   Semerci, N ^a   Ergin, S ^a   Pascucci, M ^b   Zambruno, G ^b   Castiglia, D ^b  

^a PAMUKKALE UNIVERSITY   (Turkey)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

KIND1; Kindler syndrome; Mutation database; Poikiloderma

Indexed keywords

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE; GENODERMATOSIS; HUMAN; HUMAN TISSUE; KIND1 GENE; KINDLER SYNDROME; LETTER; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SIBLING; SKIN BIOPSY; TURKEY (REPUBLIC);

ADOLESCENT; BLISTER; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MEMBRANE PROTEINS; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; SIBLINGS; SKIN DISEASES, GENETIC; SYNDROME; TURKEY;

EID: 43749110671     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08553.x     Document Type: Letter

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