Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

Human Mutation

Volumn 38, Issue 10, 2017, Pages 1394-1401

  Zhao, Jin James ^a   Halvardson, Jonatan ^a   Knaus, Alexej ^b   Georgii Hemming, Patrik ^a,c   Baeck, Peter ^d   Krawitz, Peter M ^b   Thuresson, Ann Charlotte ^a,e   Feuk, Lars ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d KALMAR COUNTY HOSPITAL   (Sweden)

^e UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

exome sequencing; GPI deficiency; intellectual disability; PIGG

Indexed keywords

COMPLEMENTARY DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN; PHOSPHOTRANSFERASE; PIGG PROTEIN, HUMAN;

AORTIC ARCH ANOMALY; ARTICLE; ATAXIC GAIT; BALANCE IMPAIRMENT; CASE REPORT; CELL SURFACE; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; EPICANTHUS; FACIAL DYSMORPHOLOGY; FEEDING DIFFICULTY; FLATFOOT; FLOW CYTOMETRY; FOOT MALFORMATION; FRONTAL BOSSING; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC VARIABILITY; GRANULOCYTE; HEART ATRIUM SEPTUM DEFECT; HEART SURGERY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERMETROPIA; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE HYPOTONIA; PALESTINE; PIGG GENE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PTOSIS; SANGER SEQUENCING; SCHOOL CHILD; STRABISMUS; TERATOLOGY; TONIC CLONIC SEIZURE; WHOLE EXOME SEQUENCING; ABNORMALITIES; CEREBELLUM; CHEMISTRY; DEFICIENCY; DEVELOPMENTAL DISORDER; FEMALE; GENE EXPRESSION; GENETICS; NERVOUS SYSTEM MALFORMATION; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; SEIZURE; SIBLING;

CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEIZURES; SIBLINGS; WHOLE EXOME SEQUENCING;

EID: 85020432950     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23268     Document Type: Article

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