A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Christopher B. Jackson, Martina Huemer, Ramona Bolognini, Franck Martin, Gabor Szinnai, Birgit C. Donner, Uwe Richter, Brendan J. Battersby, Jean-Marc Nuoffer, Anu Suomalainen, Andre Schaller

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftHuman Molecular Genetics
Volym28
Utgåva4
Sidor (från-till)639-649
Antal sidor11
ISSN0964-6906
DOI
StatusPublicerad - 15 feb 2019
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 1182 Biokemi, cell- och molekylärbiologi
  • 1184 Genetik, utvecklingsbiologi, fysiologi

Citera det här

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title = "A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement",
keywords = "MITOCHONDRIAL PROTEIN-SYNTHESIS, MUTATIONS, TRANSLATION, SUBUNIT, DISEASE, MRPL44, LEADS, 1182 Biochemistry, cell and molecular biology, 1184 Genetics, developmental biology, physiology",
author = "Jackson, {Christopher B.} and Martina Huemer and Ramona Bolognini and Franck Martin and Gabor Szinnai and Donner, {Birgit C.} and Uwe Richter and Battersby, {Brendan J.} and Jean-Marc Nuoffer and Anu Suomalainen and Andre Schaller",
year = "2019",
month = "2",
day = "15",
doi = "10.1093/hmg/ddy374",
language = "English",
volume = "28",
pages = "639--649",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "4",

}

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. / Jackson, Christopher B.; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C.; Richter, Uwe; Battersby, Brendan J.; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, Andre.

I: Human Molecular Genetics, Vol. 28, Nr. 4, 15.02.2019, s. 639-649.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

AU - Jackson, Christopher B.

AU - Huemer, Martina

AU - Bolognini, Ramona

AU - Martin, Franck

AU - Szinnai, Gabor

AU - Donner, Birgit C.

AU - Richter, Uwe

AU - Battersby, Brendan J.

AU - Nuoffer, Jean-Marc

AU - Suomalainen, Anu

AU - Schaller, Andre

PY - 2019/2/15

Y1 - 2019/2/15

KW - MITOCHONDRIAL PROTEIN-SYNTHESIS

KW - MUTATIONS

KW - TRANSLATION

KW - SUBUNIT

KW - DISEASE

KW - MRPL44

KW - LEADS

KW - 1182 Biochemistry, cell and molecular biology

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1093/hmg/ddy374

DO - 10.1093/hmg/ddy374

M3 - Article

VL - 28

SP - 639

EP - 649

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 4

ER -