Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Journal of Clinical Investigation

Volumn 115, Issue 7, 2005, Pages 1777-1784

  Akiyama, Masashi ^a   Sugiyama Nakagiri, Yoriko ^a   Sakai, Kaori ^a   McMillan, James R ^b   Goto, Maki ^a   Arita, Ken ^a   Tsuji Abe, Yukiko ^a   Tabata, Nobuko ^c   Matsuoka, Kentaro ^d   Sasaki, Rikako ^d   Sawamura, Daisuke ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c Japanese Red Cross Sendai Hospital   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A12; DNA; SKIN LIPID; UNCLASSIFIED DRUG;

ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EPIDERMIS CELL; FAMILY; GENE DELETION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GENETIC DISORDER; HARLEQUIN ICHTHYOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; ICHTHYOSIS; IMMUNOELECTRON MICROSCOPY; KERATINOCYTE; LAMELLAR ICHTHYOSIS; LIPID MEMBRANE; LIPOGENESIS; LUNG ALVEOLUS CELL TYPE 2; MISSENSE MUTATION; MOLECULAR CLONING; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN MANIFESTATION;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BIOLOGICAL TRANSPORT, ACTIVE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; GENE TRANSFER TECHNIQUES; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; KERATINOCYTES; LIPID METABOLISM, INBORN ERRORS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 22144437692     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI24834     Document Type: Article

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