ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

Human Mutation

Volumn 31, Issue 10, 2010, Pages 1090-1096

  Akiyama, Masashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ABCA12; Congenital ichthyosiform erythroderma; Harlequin ichthyosis; Lamellar ichthyosis

Indexed keywords

ABC TRANSPORTER; ABCA12 PROTEIN, HUMAN;

ABCA12 GENE; ARTICLE; AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS; CAUCASIAN; FAMILY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; INDIAN; JAPANESE; KERATINOCYTE; LIPID TRANSPORT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PAKISTANI; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RACE; STRATUM CORNEUM; ANIMAL; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; LAMELLAR ICHTHYOSIS; MOUSE; MUTATION; PATHOLOGY; PRENATAL DIAGNOSIS; RECESSIVE GENE; REVIEW; SKIN;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS, LAMELLAR; MICE; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; SKIN;

EID: 78951479569     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21326     Document Type: Article

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