Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Journal of Human Genetics

Volumn 62, Issue 4, 2017, Pages 503-506

  Wang, Zheng ^a,b   Horemuzova, Eva ^c   Iida, Aritoshi ^a   Guo, Long ^a   Liu, Ying ^c   Matsumoto, Naomichi ^d   Nishimura, Gen ^e   Nordgren, Ann ^c   Miyake, Noriko ^d   Tham, Emma ^c   Grigelioniene, Giedre ^c   Ikegawa, Shiro ^a  

^a Institute of Physical and Chemical Research   (Japan)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d YOKOHAMA CITY UNIVERSITY   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NIMA RELATED KINASE 1; C21ORF2 PROTEIN, HUMAN; NEK1 PROTEIN, HUMAN; PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; ASTIGMATISM; AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA; BONE DYSPLASIA; CASE REPORT; CHILD; DYSTROPHY; ECHOCARDIOGRAPHY; ELECTRORETINOGRAPHY; EXON; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERMETROPIA; MALE; METAPHYSIS; PHENOTYPE; RETINA DEGENERATION; SANGER SEQUENCING; SCHOOL CHILD; SPINE DISEASE; WHOLE EXOME SEQUENCING; CHONDRODYSPLASIA; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION; PEDIGREE;

CHILD; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; NIMA-RELATED KINASE 1; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PROTEINS;

EID: 85016315326     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.157     Document Type: Article

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