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

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Bibliographic Details
Published inBritish journal of dermatology (1951) Vol. 158; no. 6; pp. 1375 - 1377
Main Authors Kaçar, N., Semerci, N., Ergin, Ş., Pascucci, M., Zambruno, G., Castiglia, D.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.06.2008
Blackwell
Subjects
Adolescent
Biological and medical sciences
Blister - congenital
Blister - pathology
Dermatology
DNA Mutational Analysis
Female
Frameshift Mutation - genetics
Humans
KIND1
Kindler syndrome
Medical sciences
Membrane Proteins - genetics
mutation database
Neoplasm Proteins - genetics
Pedigree
Phenotype
Photosensitivity Disorders - congenital
Photosensitivity Disorders - genetics
Pigmentary diseases of the skin
poikiloderma
Siblings
Skin Diseases, Genetic - diagnosis
Skin involvement in other diseases. Miscellaneous. General aspects
Syndrome
Turkey
Asia
Turkey
Photosensitivity
KIND 1
Skin disease
Pigmentation disorder
Gene
Poikiloderma
Dermatology
Kindler syndrome
Database
Frameshift mutation
Sibling
mutation database
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Bibliography:istex:291CDDFDC48DF291B728F4ADEE4E7D0280C75987
ArticleID:BJD8553
ark:/67375/WNG-LX0FC84X-W
Conflicts of interest: none declared.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0007-0963
1365-2133
DOI:10.1111/j.1365-2133.2008.08553.x