Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

PLoS Genetics

Volumn 10, Issue 5, 2014, Pages

  Murakami, Yoshiko ^a   Tawamie, Hasan ^b   Maeda, Yusuke ^a   Büttner, Christian ^b   Buchert, Rebecca ^b   Radwan, Farah ^b   Schaffer, Stefanie ^b   Sticht, Heinrich ^b   Aigner, Michael ^b   Reis, André ^b   Kinoshita, Taroh ^a   Jamra, Rami Abou ^b  

^a OSAKA UNIVERSITY   (Japan)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ESTERASE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE PHOSPHODIESTERASE; PROTEIN PGAP1; UNCLASSIFIED DRUG; GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN; PGAP1 PROTEIN, HUMAN; PHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY; B LYMPHOBLAST; BRAIN DISEASE; CHROMATIN ASSEMBLY AND DISASSEMBLY; COMPUTER MODEL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXOME; FEMALE; GENE; GENE DELETION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INCUBATION TIME; INTELLECTUAL IMPAIRMENT; LYMPHOBLASTOID CELL; MALE; MOLECULAR MODEL; NULL ALLELE; PATHOGENESIS; PGAP1 GENE; PHENOTYPE; PREDICTION; PROTEIN CLEAVAGE; PROTEIN EXPRESSION; PROTEIN STRUCTURE; FLOW CYTOMETRY; GENETICS; METABOLISM; MUTATION; PEDIGREE;

BRAIN DISEASES; DNA, COMPLEMENTARY; FEMALE; FLOW CYTOMETRY; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHOSPHOINOSITIDE PHOSPHOLIPASE C; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84901631424     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004320     Document Type: Article

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