Rapid detection of homozygous mutations in congenital recessive ichthyosis

Archives of Dermatological Research

Volumn 300, Issue 2, 2008, Pages 81-85

  Lugassy, Jennie ^a,b   Hennies, Hans Christian ^c   Indelman, Margarita ^a   Khamaysi, Ziad ^a   Bergman, Reuven ^a,b   Sprecher, Eli ^a,b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Homozygosity mapping; Ichthyosis; Mutation

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; GENE MAPPING; GENETIC ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

CONSANGUINITY; CYTOCHROME P-450 ENZYME SYSTEM; DERMATITIS, EXFOLIATIVE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INFANT; INFANT, NEWBORN; IRAN; ISRAEL; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; SEPSIS; TRANSGLUTAMINASES;

EID: 38349151325     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-007-0815-0     Document Type: Article

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