A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 183-188

  Nakagawa, Taku ^a   Taniguchi Ikeda, Mariko ^a,b   Murakami, Yoshiko ^c,d   Nakamura, Shota ^c   Motooka, Daisuke ^c   Emoto, Tomomi ^a   Satake, Wataru ^a   Nishiyama, Masahiro ^a   Toyoshima, Daisaku ^a   Morisada, Naoya ^a   Takada, Satoshi ^a   Tairaku, Shinya ^a,b   Okamoto, Nobuhiko ^e   Morioka, Ichiro ^a   Kurahashi, Hiroki ^f   Toda, Tatsushi ^a,b   Kinoshita, Taroh ^c,d   Iijima, Kazumoto ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KOBE UNIVERSITY HOSPITAL   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY   (Japan)

^e RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^f FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

Developmental defect; Genetic counseling; Inherited GPI deficiency; PIGN; Prenatal diagnosis

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; PROLINE; SERINE; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; PHOSPHOTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL SURFACE; CHILD; DISORDERS OF CARBOHYDRATE METABOLISM; EPILEPSY; EXON; FACE DYSMORPHIA; FETUS; FLUORESCENCE ACTIVATED CELL SORTING; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GRANULOCYTE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; MALE; MUTATIONAL ANALYSIS; PIGN GENE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; DEFICIENCY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EXOME; FACIES; FEMALE; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PREGNANCY; PROCEDURES;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; DEVELOPMENTAL DISABILITIES; EPILEPSY; EXOME; FACIES; FEMALE; GLYCOSYLPHOSPHATIDYLINOSITOLS; GRANULOCYTES; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; PHOSPHOTRANSFERASES; PREGNANCY; PRENATAL DIAGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84955731726     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37397     Document Type: Article

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