Variant nonketotic hyperglycinemia due to novel compound heterozygous LIAS mutations: a case with a branchpoint mutation

L. Poelsler, B. Muehlegger, S. Gang, P. Traunfellner, A. Amberger, K. Wimmer, S. Rudnik, J. Zschocke

Onderzoeksoutput: Meeting abstract (Journal)

Originele taal-2	English
Pagina's (van-tot)	861-861
Tijdschrift	European Journal of Human Genetics
Volume	28
Nummer van het tijdschrift	SUPPL 1
Status	Published - dec 2020
Evenement	ESHG meeting 2020.2 van 6-9 juni 2020 - Duur: 6 jun 2020 → 9 jun 2020

Citeer dit

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title = "Variant nonketotic hyperglycinemia due to novel compound heterozygous LIAS mutations: a case with a branchpoint mutation",

author = "L. Poelsler and B. Muehlegger and S. Gang and P. Traunfellner and A. Amberger and K. Wimmer and S. Rudnik and J. Zschocke",

year = "2020",

month = dec,

language = "English",

volume = "28",

pages = "861--861",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "SUPPL 1",

note = "ESHG meeting 2020.2 van 6-9 juni 2020 ; Conference date: 06-06-2020 Through 09-06-2020",

}

TY - JOUR

T1 - Variant nonketotic hyperglycinemia due to novel compound heterozygous LIAS mutations: a case with a branchpoint mutation

AU - Poelsler, L.

AU - Muehlegger, B.

AU - Gang, S.

AU - Traunfellner, P.

AU - Amberger, A.

AU - Wimmer, K.

AU - Rudnik, S.

AU - Zschocke, J.

PY - 2020/12

Y1 - 2020/12

M3 - Meeting abstract (Journal)

VL - 28

SP - 861

EP - 861

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - SUPPL 1

T2 - ESHG meeting 2020.2 van 6-9 juni 2020

Y2 - 6 June 2020 through 9 June 2020

ER -