Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Nature Genetics

Volumn 40, Issue 12, 2008, Pages 1410-1412

  Hennies, Hans Christian ^a,b   Kornak, Uwe ^c,d   Zhang, Haikuo ^c,d   Egerer, Johannes ^d,e   Zhang, Xin ^c,d   Seifert, Wenke ^a,c   Kühnisch, Jirko ^c   Budde, Birgit ^a   Nätebus, Marc ^a   Brancati, Francesco ^f,r   Wilcox, William R ^g   Müller, Dietmar ^h   Kaplan, Paige B ⁱ   Rajab, Anna ^j   Zampino, Giuseppe ^k   Fodale, Valentina ^l   Dallapiccola, Bruno ^f,r   Newman, William ^m   Metcalfe, Kay ^m   Clayton Smith, Jill ^m   Tassabehji, May ^m   Steinmann, Beat ⁿ   Barr, Francis A ^e,o   Nürnberg, Peter ^a,b   Wieacker, Peter ^p   Mundlos, Stefan ^c,d,q   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g CEDARS SINAI MEDICAL CENTER   (United States)

^h KLINIKUM CHEMNITZ   (Germany)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j MINISTRY OF HEALTH   (Oman)

^k CATHOLIC UNIVERSITY   (Italy)

^l ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^m UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁿ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^o UNIVERSITY OF LIVERPOOL   (United Kingdom)

^p UNIVERSITY OF MÜNSTER   (Germany)

^q Berlin Brandenburg Center for Regenerative Therapies   (Germany)

^r UNIVERSITY OF CHIETI   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GOLGIN; PROTEIN RAB6; RAB PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; GENE; GENE EXPRESSION; GENE SEQUENCE; GERODERMIA OSTEODYSPLASTICA; HAPLOTYPE; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCYL1BP1 GENE; SEQUENCE ANALYSIS; WRINKLE;

BONE DISEASES; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; INFANT; MALE; PEDIGREE; RAB GTP-BINDING PROTEINS; SKIN DISEASES, GENETIC;

EID: 56749131629     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.252     Document Type: Article

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