A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma

British Journal of Dermatology

Volumn 155, Issue 1, 2006, Pages 198-200

  Ashoor, G ^a,b   Masse M ^b   Garcia Luciano L M ^b   Sheffer, R ^c   Martinez Mir, A ^b   Christiano, A M ^b   Zlotogorski, A ^c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b Columbia University ^*  (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

ALOX12B; Autosomal recessive; Ichthyosis; Missense mutation; Nonbullous congenital ichthyosiform erythroderma

Indexed keywords

ARACHIDONATE 12 LIPOXYGENASE; GENOMIC DNA;

ALOPECIA; ARAB; ARTICLE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONSANGUINEOUS MARRIAGE; DNA ISOLATION; DNA SEQUENCE; EXON; EYEBROW; EYELASH; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HOMOZYGOTE; HUMAN; INFANT; KERATODERMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCANTY HAIR;

ARABS; ARACHIDONATE 12-LIPOXYGENASE; BASE SEQUENCE; CASE-CONTROL STUDIES; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 33745040761     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07188.x     Document Type: Article

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