Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Human Genetics

Volumn 129, Issue 5, 2011, Pages 497-502

  Kim, Su Jin ^a   Bieganski, Tadeusz ^b   Sohn, Young Bae ^c   Kozlowski, Kazimierz ^d   Semënov, Mikhail ^e   Okamoto, Nobuhiko ^f   Kim, Chi Hwa ^g   Ko, Ah Ra ^g   Ahn, Geung Hwan ^c   Choi, Yoon La ^c   Park, Sung Won ^c   Ki, Chang Seok ^c   Kim, Ok Hwa ^h   Nishimura, Gen ⁱ   Unger, Sheila ^j   Superti Furga, Andrea ^j   Jin, Dong Kyu ^c  

^a National Cancer Center   (South Korea)

^b POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^g Samsung Medical Center   (South Korea)

^h Ajou University Medical CentSuwon   (South Korea)

ⁱ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^j UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SCLEROSTIN; SIGNAL PEPTIDE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CRANIODIAPHYSEAL DYSPLASIA; DIAPHYSIS DYSPLASIA; FACE DEFORMITY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; HUMAN; OSTEOSCLEROSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; BONE MORPHOGENETIC PROTEINS; CHILD; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC MARKERS; HUMANS; MALE; MUTATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN SORTING SIGNALS;

EID: 79955562375     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-0947-3     Document Type: Article

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