A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome

British Journal of Dermatology

Volumn 160, Issue 5, 2009, Pages 1119-1122

  Zhou, C ^a   Song, S ^b   Zhang, J ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

Author keywords

Deletion mutation; FERMT1; KIND1; Kindler syndrome

Indexed keywords

ADULT; ALOPECIA AREATA; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; BLOOD SAMPLING; CASE REPORT; CHEILITIS; CHINESE; CONTRACTURE; DELETION MUTANT; DNA EXTRACTION; DNA FLANKING REGION; ECTROPION; ELECTRON MICROSCOPY; ERYTHEMA; EXON; FERMT1 GENE; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE SEQUENCE; GENODERMATOSIS; GINGIVA DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; HYPOPIGMENTATION; INDEL MUTATION; KINDLER SYNDROME; LETTER; MALE; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PHOTOSENSITIVITY; POIKILODERMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; SKIN ATROPHY; SKIN BIOPSY; SUN EXPOSURE; TELANGIECTASIA;

GENE DELETION; HUMANS; MALE; MEMBRANE PROTEINS; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; SKIN DISEASES, GENETIC; SYNDROME; YOUNG ADULT;

EID: 64849085158     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09052.x     Document Type: Letter

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