Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

Human Mutation

Volumn 34, Issue 4, 2013, Pages 587-594

  Bornholdt, Dorothea ^a   Atkinson, T Prescott ^b   Bouadjar, Bakar ^c   Catteau, Benoit ^d   Cox, Helen ^e   De Silva, Deepthi ^f   Fischer, Judith ^g   Gunasekera, Chalukya N ^h   Hadj Rabia, Smaïl ⁱ   Happle, Rudolf ^g   Holder Espinasse, Muriel ^j   Kaminski, Elke ^k   König, Arne ^a   Mégarbané, André ^l   Mégarbané, Hala ^m   Neidel, Ulrike ^a   Oeffner, Frank ^a   Oji, Vinzenz ⁿ   Theos, Amy ^o   Traupe, Heiko ⁿ   Vahlquist, Anders ^p   van Bon, Bregje W ^q   Virtanen, Marie ^p   Grzeschik, Karl Heinz ^a   more..

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c Bab El Oued Hospital   (Algeria)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF KELANIYA   (Sri Lanka)

^g UNIVERSITY OF FREIBURG   (Germany)

^h North Colombo Teaching Hospital   (Sri Lanka)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j GUY S HOSPITAL   (United Kingdom)

^k Praxis für Humangenetik Altona   (Germany)

^l SAINT JOSEPH UNIVERSITY   (Lebanon)

^m SAINT GEORGE HOSPITAL UNIVERSITY MEDICAL CENTER   (Lebanon)

ⁿ UNIVERSITY OF MÜNSTER   (Germany)

^o CHILDREN S HOSPITAL OF ALABAMA   (United States)

^p UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^q RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Genotype phenotype; IFAP syndrome; KFSDX; MBTPS2; S2P

Indexed keywords

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

ANIMAL CELL; ARTICLE; BIOLOGICAL TRAIT; CELL GROWTH; CLINICAL ARTICLE; CONTROLLED STUDY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ICHTHYOSIS; ICHTHYOSIS FOLLICULARIS WITH ATRICHIA AND PHOTOPHOBIA SYNDROME; KERATOSIS; MALE; MISSENSE MUTATION; NONHUMAN; OLMSTED SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ALLELES; ALOPECIA; ANIMALS; CELL LINE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC COMPLEMENTATION TEST; GENETIC DISEASES, X-LINKED; HUMANS; ICHTHYOSIS; MALE; METALLOENDOPEPTIDASES; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PHENOTYPE; PHOTOPHOBIA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; SKIN DISEASES, GENETIC; YOUNG ADULT;

EID: 84875552251     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22275     Document Type: Article

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