Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmueller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M.

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-03-20T10:59:10Z
dc.date.available	2020-03-20T10:59:10Z
dc.date.issued	2019
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/99226
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2019.05.019	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_00412
utue.publikation.seiten	384-394	de_DE
utue.personen.roh	Murakami, Yoshiko
utue.personen.roh	Thi Tuyet Mai Nguyen
utue.personen.roh	Baratang, Nissan
utue.personen.roh	Raju, Praveen K.
utue.personen.roh	Knaus, Alexej
utue.personen.roh	Ellard, Sian
utue.personen.roh	Jones, Gabriela
utue.personen.roh	Lace, Baiba
utue.personen.roh	Rousseau, Justine
utue.personen.roh	Ajeawung, Norbert Fonya
utue.personen.roh	Kamei, Atsushi
utue.personen.roh	Minase, Gaku
utue.personen.roh	Akasaka, Manami
utue.personen.roh	Araya, Nami
utue.personen.roh	Koshimizu, Eriko
utue.personen.roh	van den Ende, Jenneke
utue.personen.roh	Erger, Florian
utue.personen.roh	Altmueller, Janine
utue.personen.roh	Krumina, Zita
utue.personen.roh	Strautmanis, Jurgis
utue.personen.roh	Inashkina, Inna
utue.personen.roh	Stavusis, Janis
utue.personen.roh	El-Gharbawy, Areeg
utue.personen.roh	Sebastian, Jessica
utue.personen.roh	Puri, Ratna Dua
utue.personen.roh	Kulshrestha, Samarth
utue.personen.roh	Verma, Ishwar C.
utue.personen.roh	Maier, Esther M.
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Israni, Anil
utue.personen.roh	Baptista, Julia
utue.personen.roh	Gunning, Adam
utue.personen.roh	Rosenfeld, Jill A.
utue.personen.roh	Liu, Pengfei
utue.personen.roh	Joosten, Marieke
utue.personen.roh	Rocha, Maria Eugenia
utue.personen.roh	Hashem, Mais O.
utue.personen.roh	Aldhalaan, Hesham M.
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Miyatake, Satoko
utue.personen.roh	Matsumoto, Naomichi
utue.personen.roh	Krawitz, Peter M.
utue.personen.roh	Rossignol, Elsa
utue.personen.roh	Kinoshita, Taroh
utue.personen.roh	Campeau, Philippe M.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	105	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE