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Volumn 95, Issue 5, 2014, Pages 622-632

Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome

(27)  Hussain, Muhammad Sajid a,b   Battaglia, Agatino c   Szczepanski, Sandra a,b   Kaygusuz, Emrah b   Toliat, Mohammad Reza a   Sakakibara, Shin Ichi d   Altmüller, Janine a,b   Thiele, Holger a   Nürnberg, Gudrun a   Moosa, Shahida b   Yigit, Gökhan b   Beleggia, Filippo b   Tinschert, Sigrid e,f   Clayton Smith, Jill g   Vasudevan, Pradeep h   Urquhart, Jill E g   Donnai, Dian g   Fryer, Alan i   Percin, Ferda j   Brancati, Francesco k,l   more..


Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL DIVISION; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME SEGREGATION; CKAP2L GENE; CLINICAL FEATURE; EXOME; FAMILY; FEMALE; FILIPPI SYNDROME; GENE; GENE AND NUCLEIC ACID PARAMETERS; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL LINE; MALE; MICROTUBULE; MITOSIS SPINDLE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RADMIS GENE; SPINDLE POLE; STEM CELL; WHOLE EXOME SEQUENCING; WILD TYPE; ANIMAL; CONFOCAL MICROSCOPY; DNA SEQUENCE; FACIES; FRAMESHIFT MUTATION; GENE STRUCTURE; GENETICS; GROWTH DISORDER; ITALY; MICROCEPHALY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; RECESSIVE GENE; SYNDACTYLY;

EID: 84922333576     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.008     Document Type: Article
Times cited : (35)

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