A novel mutation inPIGWcauses glycosylphosphatidylinositol deficiency without hyperphosphatasia

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A recurrent germline mutation in thePIGAgene causes Simpson-Golabi-Behmel syndrome type 2

(2015) Christine Fauth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

(2015) Leah Fleming et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

(2014) Bobby G. Ng et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

Biosynthesis and deficiencies of glycosylphosphatidylinositol

(2014) Taroh KINOSHITA   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

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

(2014) Yoshiko Murakami et al.   PLoS Genetics

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

(2013) Denise Horn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS