Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Molecular and Cellular Probes

Volumn 29, Issue 5, 2015, Pages 323-329

  Granzow, M ^a   Paramasivam, N ^b,c   Hinderhofer, K ^a   Fischer, C ^a   Chotewutmontri, S ^b   Kaufmann, L ^a   Evers, C ^a   Kotzaeridou, U ^d   Rohrschneider, K ^d   Schlesner, M ^b   Sturm, M ^e   Pinkert, S ^b   Eils, R ^a,b   Bartram, C R ^a   Bauer, P ^e   Moog, U ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Analysis pipeline; Encephalopathy; Intellectual disability; PGAP1; Retinal dystrophy; Whole Exome Sequencing

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; MEMBRANE PROTEIN; PGAP1 PROTEIN, HUMAN; PHOSPHATASE;

ARTICLE; BIOINFORMATICS; BRAIN DISEASE; CASE REPORT; CHILD; COMPUTER MODEL; COMPUTER PROGRAM; EXOME; EXON; FEMALE; GENE; GENE FREQUENCY; GERMLINE MUTATION; HAPLOTYPE; HUMAN; INFANT; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POST GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR PROTEIN ATTACHMENT TO PROTEIN 1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA DYSTROPHY; SCHOOL CHILD; BIOLOGY; CONSANGUINITY; DNA SEQUENCE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; MUTATION; PEDIGREE; PROCEDURES; TURKEY;

BRAIN DISEASES; COMPUTATIONAL BIOLOGY; CONSANGUINITY; EXOME; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 84946494363     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2015.05.012     Document Type: Article

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