Identification and in vivo functional characterization of novel compound heterozygous BMP1 Variants in osteogenesis imperfecta

Human Mutation

Volumn 36, Issue 2, 2015, Pages 191-195

  Cho, Sung Yoon ^a   Asharani, P V ^b   Kim, Ok Hwa ^c   Iida, Aritoshi ^d   Miyake, Noriko ^e   Matsumoto, Naomichi ^e   Nishimura, Gen ^f   Ki, Chang Seok ^a   Hong, Geehay ^a   Kim, Su Jin ^g   Sohn, Young Bae ^h   Park, Sung Won ^g   Lee, Jieun ^a   Kwun, Younghee ^a   Carney, Thomas J ^b,i   Huh, Rimm ^a   Ikegawa, Shiro ^d   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^c Gachon University   (South Korea)

^d RIKEN   (Japan)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^g Kwandong University College of Medicine   (South Korea)

^h Ajou University Medical CentSuwon   (South Korea)

ⁱ NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

Author keywords

BMP1; Mutation; Osteogenesis imperfecta; Whole exome sequencing; Zebrafish

Indexed keywords

PAMIDRONIC ACID; BMP1 PROTEIN, HUMAN; PROCOLLAGEN C PROTEINASE;

ARTICLE; BMP1 GENE; CHILD; CLINICAL ARTICLE; EXON; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; IN VIVO STUDY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; OSTEOGENESIS IMPERFECTA; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIUS FRACTURE; SCOLIOSIS; SHORT STATURE; UMBILICAL HERNIA; AMINO ACID SUBSTITUTION; ANIMAL; FEMALE; GENETIC ASSOCIATION; GENETICS; INFANT; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH;

DANIO RERIO;

AMINO ACID SUBSTITUTION; ANIMALS; BONE MORPHOGENETIC PROTEIN 1; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INFANT; OSTEOGENESIS IMPERFECTA; POLYMORPHISM, SINGLE NUCLEOTIDE; ZEBRAFISH;

EID: 84922014000     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22731     Document Type: Article

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