Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

British Journal of Dermatology

Volumn 158, Issue 4, 2008, Pages 864-867

  Akiyama, M ^a   Sakai, K ^a   Hatamochi, A ^b   Yamazaki, S ^b   McMillan, J R ^a   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

ATP binding cassette transporter; Barrier function; Ichthyosis; Lipid

Indexed keywords

ABC TRANSPORTER; PROTEIN ABCA12; UNCLASSIFIED DRUG;

ALLELE; CASE REPORT; EXON; GENE AMPLIFICATION; HUMAN; HUMAN TISSUE; INTRON; LETTER; MALE; MISSENSE MUTATION; NONBULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; SKIN BIOPSY;

ATP-BINDING CASSETTE TRANSPORTERS; CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; ICHTHYOSIS, LAMELLAR; MALE; MUTATION, MISSENSE;

EID: 40949127384     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08439.x     Document Type: Letter

References (10)

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