Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Journal of Clinical Investigation

Volumn 114, Issue 10, 2004, Pages 1467-1474

  Poblete Gutiérrez, Pamela ^a,b   Wiederholt, Tonio ^a,b   König, Arne ^c   Jugert, Frank K ^a   Marquardt, Yvonne ^a   Rübben, Albert ^a   Merk, Hans F ^a   Happle, Rudolf ^c   Frank, Jorge ^a,b,d  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA; ADENOSINE TRIPHOSPHATASE (CALCIUM); ATP2C1 PROTEIN, HUMAN; MICROSATELLITE DNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; ERYTHEMA; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; HAILEY HAILEY DISEASE; HAPLOTYPE; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; LASER MICRODISSECTION; MICROSATELLITE MARKER; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN DEFECT; BLOOD; CASE REPORT; CELL CULTURE; CHEMISTRY; CHROMOSOME 3; CLASSIFICATION; CYTOLOGY; DOMINANT GENE; FEMALE; GENETIC MARKER; GENETICS; HETERODUPLEX ANALYSIS; MOSAICISM; MUTATION; PATHOLOGY; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN;

ALLELES; CALCIUM-TRANSPORTING ATPASES; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 3; DNA; FEMALE; GENE DOSAGE; GENES, DOMINANT; GENETIC MARKERS; GERM-LINE MUTATION; HAPLOTYPES; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HUMANS; KERATINOCYTES; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; MOSAICISM; PEDIGREE; PEMPHIGUS, BENIGN FAMILIAL; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA; SKIN;

EID: 85047694384     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI21791     Document Type: Article

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