Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction

Cell and Tissue Research

Volumn 351, Issue 2, 2013, Pages 281-288

  Scott, Claire A ^a   Rajpopat, Shefali ^a   Di, Wei Li ^b  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

ABCA12; Glucosylceramides; Harlequin ichthyosis; Proteases; Skin barrier

Indexed keywords

ABC TRANSPORTER; ABCA12 PROTEIN, HUMAN;

ANIMAL; GENETICS; HUMAN; LAMELLAR ICHTHYOSIS; LIPID METABOLISM; METABOLISM; MISSENSE MUTATION; PATHOLOGY; REVIEW; SKIN;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; HUMANS; ICHTHYOSIS, LAMELLAR; LIPID METABOLISM; MUTATION, MISSENSE; SKIN;

EID: 84878359670     PISSN: 0302766X     EISSN: 14320878     Source Type: Journal    
DOI: 10.1007/s00441-012-1474-9     Document Type: Review

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