Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Human Mutation

Volumn 31, Issue 10, 2010, Pages 1125-1133

  Aten, Emmelien ^a   Brasz, Lisa C ^a   Bornholdt, Dorothea ^b   Hooijkaas, Ingeborg B ^a   Porteous, Mary E ^c   Sybert, Virginia P ^d,e   Vermeer, Maarten H ^a   Vossen, Rolf H A M ^a   van der Wielen, Michiel J R ^a   Bakker, Egbert ^a   Breuning, Martijn H ^a   Grzeschik, Karl Heinz ^b   Oosterwijk, Jan C ^f   den Dunnen, Johan T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Group Health Permanente   (United States)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Ichthyosis follicularis; IFAP; Keratosis Follicularis Spinulosa Decalvans; MBTPS2

Indexed keywords

ASPARAGINE; MBTPS2 PROTEIN; MESSENGER RNA; PROTEIN; SERINE; UNCLASSIFIED DRUG; MBTPS2 PROTEIN, HUMAN; METALLOPROTEINASE;

ALLELE; ANIMAL CELL; ARTICLE; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; KERATOSIS FOLLICULARIS SPINULOSA; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; X CHROMOSOME INACTIVATION; DARIER DISEASE; DNA MICROARRAY; GENETICS; MISSENSE MUTATION; NETHERLANDS; PATHOLOGY; PEDIGREE; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; DARIER DISEASE; FEMALE; HUMANS; MALE; METALLOENDOPEPTIDASES; MUTATION, MISSENSE; NETHERLANDS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952116141     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21335     Document Type: Article

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