Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

Clinical Genetics

Volumn 66, Issue 3, 2004, Pages 236-238

  Nagao Watanabe, Mizuho ^a   Fukao, T ^a   Matsui, E ^a   Kaneko, H ^a   Inoue, R ^a   Kawatomo, N ^a   Kasahara, K ^a   Nagai, M ^a   Ichiki, Y ^a   Kitajima, Y ^a   Kondo, N ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

Epidermolysis bullosa simplex; Familial analysis; Keratin 5; Mosaicism

Indexed keywords

CYTOKERATIN 14; DNA; KERATIN; KERATIN 5; UNCLASSIFIED DRUG;

ACCURACY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASEMENT MEMBRANE; BLOOD SAMPLING; BULLOUS SKIN DISEASE; CASE REPORT; CELL DEGENERATION; CHEEK MUCOSA; CLINICAL FEATURE; DELETION MUTANT; DNA DETERMINATION; EPIDERMIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC COUNSELING; GERM LINE; HAIR ROOT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; KERATINOCYTE; MECHANICAL STRESS; MOSAICISM; MUTATIONAL ANALYSIS; NEWBORN; PIGMENT DISORDER; PRIORITY JOURNAL; SIBLING; SOMATIC CELL GENETICS;

BASE SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; EXONS; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; JAPAN; KERATIN-5; KERATINS; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 4544223818     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00292.x     Document Type: Article

References (7)

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