A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

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

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis

(2012) Paulo C. J. L. Santos et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

French Retrospective Multicentric Study of Neonatal Hemochromatosis: Importance of Autopsy and Autoimmune Maternal Manifestations

(2012) Sophie Collardeau-Frachon et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Control of Systemic Iron Homeostasis by the Hemojuvelin-Hepcidin Axis

(2012) An-Sheng Zhang   Advances in Nutrition

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

GPI-anchored proteins at the node of Ranvier

(2009) Marilyne Labasque et al.   FEBS LETTERS

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY