Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): Evidence of founder effects

British Journal of Dermatology

Volumn 165, Issue 4, 2011, Pages 906-911

  Rodriguez Pazos L ^a   Ginarte, M ^a   Fachal, L ^b   Toribio, J ^a   Carracedo, A ^b   Vega, A ^b  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALOX12B PROTEIN; ALOXE3 PROTEIN; CYP4F22 PROTEIN; DNA; NIPAL4 PROTEIN; PROTEIN; RETINOID; TGM1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; COMPUTER MODEL; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONTROLLED STUDY; DNA EXTRACTION; ECTROPION; ERYTHEMA; EXON; FEMALE; FOUNDER EFFECT; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; LAMELLAR ICHTHYOSIS; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MOLECULAR MODEL; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ARACHIDONATE 12-LIPOXYGENASE; CHILD; CHILD, PRESCHOOL; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; FOUNDER EFFECT; GENOTYPE; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPOXYGENASE; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, CELL SURFACE; SPAIN; TRANSGLUTAMINASES;

EID: 80053575165     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10454.x     Document Type: Article

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