Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

PLoS Genetics

Volumn 9, Issue 6, 2013, Pages

  Radner, Franz P W ^a   Marrakchi, Slaheddine ^b   Kirchmeier, Peter ^a,c   Kim, Gwang Jin ^a,c   Ribierre, Florence ^d   Kamoun, Bourane ^e   Abid, Leila ^b   Leipoldt, Michael ^a   Turki, Hamida ^b   Schempp, Werner ^a   Heilig, Roland ^d   Lathrop, Mark ^d,f,g   Fischer, Judith ^a,d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c UNIVERSITY OF FREIBURG   (Germany)

^d DIF   (France)

^e HABIB BOURGUIBA HOSPITAL   (Tunisia)

^f FONDATION JEAN DAUSSET CEPH   (France)

^g MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS1 PROTEIN; ADAMTS17 PROTEIN; CERAMIDE; CERAMIDE SYNTHASE 3; SPHINGOLIPID; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; CERS3 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; EYE DISEASE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; HEART DISEASE; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; IN VITRO STUDY; KERATINOCYTE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA; WEILL MARCHESANI SYNDROME;

ADAM PROTEINS; ANIMALS; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MUTATION; ORGAN SPECIFICITY; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; RNA, LONG UNTRANSLATED; SPHINGOLIPIDS; SPHINGOSINE N-ACYLTRANSFERASE; TUNISIA;

CANIS FAMILIARIS;

EID: 84879632820     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003536     Document Type: Article

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