Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Experimental Dermatology

Volumn 20, Issue 5, 2011, Pages 447-449

  Oeffner, Frank ^a   Martinez, Francisco ^b   Schaffer, Julie ^c   Salhi, Aïcha ^d   Monfort, Sandra ^b   Oltra, Silvestre ^b   Neidel, Ulrike ^a   Bornholdt, Dorothea ^a   van Bon, Bregje ^e   König, Arne ^a   Happle, Rudolf ^a   Grzeschik, Karl Heinz ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Benyoucef Benkhedda   (Algeria)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

IFAP syndrome; Intronic splicing enhancer; MBTPS2; Minigene assay

Indexed keywords

MEMBRANE BOUND TRANSCRIPTION FACTOR PROTEASE SITE 2; MESSENGER RNA; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CHILD; COMPUTER MODEL; CONTROLLED STUDY; EXON; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENODERMATOSIS; HUMAN; ICHTHYOSIS FOLLICULARIS, ALOPECIA AND PHOTOPHOBIA SYNDROME; INTRON; INTRONIC SPLICING ENHANCER; LETTER; MALE; MINIGENE ASSAY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON; X CHROMOSOME LINKED DISORDER;

ADULT; ALGORITHMS; ALOPECIA; BASE SEQUENCE; CHILD; COMPUTATIONAL BIOLOGY; HUMANS; ICHTHYOSIS; INTRONS; MALE; METALLOENDOPEPTIDASES; PHOTOPHOBIA; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA SPLICING; SOFTWARE;

EID: 79954972050     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2010.01238.x     Document Type: Letter

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