Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13

Journal of Investigative Dermatology

Volumn 125, Issue 3, 2005, Pages 456-462

  Mizrachi Koren, Mordechai ^a   Geiger, Dan ^a   Indelman, Margarita ^a   Bitterman Deutsch, Ora ^b   Bergman, Reuven ^a   Sprecher, Eli ^a,c  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b WESTERN GALILEE HOSPITAL   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Cornification; Genetic; Homozygosity; Ichthyosis; Mapping; Periphilin

Indexed keywords

AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL DIFFERENTIATION; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 12P; CLINICAL ARTICLE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EPIDERMIS CELL; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; CHROMOSOME 12; CHROMOSOME MAP; GENETICS; LAMELLAR ICHTHYOSIS; MUTATION; PATHOLOGY;

NUCLEAR PROTEIN; PERIPHILIN PROTEIN, HUMAN; TUMOR ANTIGEN;

ANTIGENS, NEOPLASM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; ICHTHYOSIS, LAMELLAR; MUTATION; NUCLEAR PROTEINS;

EID: 27144452100     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23777.x     Document Type: Article

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