Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
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Englisch
- Erschienen in
-
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency ; volume:45 ; number:1 ; day:4 ; month:12 ; year:2024 ; pages:1-12 ; date:12.2025
Journal of clinical immunology ; 45, Heft 1 (4.12.2024), 1-12, 12.2025
- Klassifikation
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Biowissenschaften, Biologie
- Urheber
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Zhen, Xin
Betti, Michael J.
Kars, Meltem Ece
Patterson, Andrew R.
Medina-Torres, Edgar Alejandro
Scheffler Mendoza, Selma Cecilia
Herrera Sánchez, Diana Andrea
Lopez-Herrera, Gabriela
Svyryd, Yevgeniya
Mutchinick, Osvaldo M.
Gamazon, Eric R.
Rathmell, Jeffrey C.
Itan, Yuval
Markle, Janet
O’Farrill Romanillos, Patricia
Lugo-Reyes, Saul Oswaldo
Martinez-Barricarte, Ruben
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1007/s10875-024-01836-0
- URN
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urn:nbn:de:101:1-2502182117083.660339861839
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:28 MESZ
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Beteiligte
- Zhen, Xin
- Betti, Michael J.
- Kars, Meltem Ece
- Patterson, Andrew R.
- Medina-Torres, Edgar Alejandro
- Scheffler Mendoza, Selma Cecilia
- Herrera Sánchez, Diana Andrea
- Lopez-Herrera, Gabriela
- Svyryd, Yevgeniya
- Mutchinick, Osvaldo M.
- Gamazon, Eric R.
- Rathmell, Jeffrey C.
- Itan, Yuval
- Markle, Janet
- O’Farrill Romanillos, Patricia
- Lugo-Reyes, Saul Oswaldo
- Martinez-Barricarte, Ruben
- SpringerLink (Online service)
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PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset