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

✍ Scribed by Frank Oeffner; Francisco Martinez; Julie Schaffer; Aïcha Salhi; Sandra Monfort; Silvestre Oltra; Ulrike Neidel; Dorothea Bornholdt; Bregje van Bon; Arne König; Rudolf Happle; Karl-Heinz Grzeschik

Book ID: 111244831
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 135 KB
Volume: 20
Category: Article
ISSN: 0906-6705
DOI: 10.1111/j.1600-0625.2010.01238.x

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