Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis

Human Molecular Genetics

Volumn 24, Issue 19, 2015, Pages 5378-5387

  Koparir, Asuman ^a   Karatas, Omer F ^b   Yuceturk, Betul ^c   Yuksel, Bayram ^d   Bayrak, Ali O ^c   Gerdan, Omer F ^c   Sagiroglu, Mahmut S ^c   Gezdirici, Alper ^e   Kirimtay, Koray ^f   Selcuk, Ece ^f   Karabay, Arzu ^f   Creighton, Chad J ^g   Yuksel, Adnan ⁱ   Ozen, Mustafa ^a,h,i  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ERZURUM TECHNICAL UNIVERSITY   (Turkey)

^c SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY   (Turkey)

^d Research Institute for Genetic Engineering and Biotechnology   (Turkey)

^e Istanbul Kanuni Sultan Suleyman Research and Teaching Hospital   (Turkey)

^f ISTANBUL TECHNICAL UNIVERSITY   (Turkey)

^g Departments of Biostatistics   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ BIRUNI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

POC1A PROTEIN; PROTEIN; PROTEIN P80; UNCLASSIFIED DRUG; PEDILSTATIN; PHORBOL DERIVATIVE; POC1A PROTEIN, HUMAN;

ARTICLE; BIOGENESIS; CARTILAGE CELL; CASE REPORT; CENTRIOLE; CENTROSOME; CHILD; CYTOSKELETON; DWARFISM; EXOME; EXTRACELLULAR MATRIX; FEMALE; FIBROBLAST; GENE EXPRESSION; GROWTH PLATE; HUMAN; MALE; MISSENSE MUTATION; MITOSIS SPINDLE; PATHOGENICITY; PRECAMBRIAN; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; CELL CULTURE; CHROMOSOME ABERRATION; CYTOLOGY; DNA SEQUENCE; GENETICS; METABOLISM; PROCEDURES; SKIN;

CELLS, CULTURED; CENTRIOLES; CHILD; CHROMOSOME ABERRATIONS; DWARFISM; EXOME; FEMALE; FIBROBLASTS; HUMANS; MALE; MUTATION, MISSENSE; PHORBOLS; PROTEINS; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 84943812978     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv261     Document Type: Article

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