Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome [10]

British Journal of Dermatology

Volumn 157, Issue 6, 2007, Pages 1281-1284

  Martignago, B C F ^a   Lai Cheong, J E ^b   Liu, L ^b   McGrath, J A ^b   Cestari, T F ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Blister; Genetic; Haplotype; Kindler syndrome; Kindlin 1

Indexed keywords

PROTEIN; PROTEIN KIND1; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONSANGUINITY; EXON; FRAMESHIFT MUTATION; GENE INSERTION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; KINDLER SYNDROME; LETTER; MUCOSAL DISEASE; MUTATIONAL ANALYSIS; PEDIGREE; PHOTOSENSITIVITY; POIKILODERMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FRAGILITY; SKIN INFECTION;

FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; PEDIGREE; SKIN DISEASES, GENETIC; SYNDROME;

EID: 36148998088     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08219.x     Document Type: Letter

References (8)

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8. Lai-Cheong JE, Liu L, Sethuraman G et al. Five new homozygous mutations in KIND1 gene in Kindler syndrome. J Invest Dermatol 2007 127 : 2268 70.