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

Journal of Medical Genetics

Volumn 51, Issue 3, 2014, Pages 203-207

  Chiyonobu, Tomohiro ^a   Inoue, Norimitsu ^b   Morimoto, Masafumi ^a   Kinoshita, Taroh ^c,d   Murakami, Yoshiko ^c,d  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^b Osaka Medical Center for Cancer   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; EPILEPSY AND SEIZURES; NEUROLOGY;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CHO CELLS; CRICETULUS; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PHOSPHORUS METABOLISM DISORDERS; SEQUENCE ALIGNMENT; SPASMS, INFANTILE;

EID: 84894426692     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102156     Document Type: Article

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