SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftAmerican Journal of Medical Genetics. Part A
Volym179
Utgåva7
Sidor (från-till)1362-1365
Antal sidor4
ISSN1552-4825
DOI
StatusPublicerad - jul 2019
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper
  • 1184 Genetik, utvecklingsbiologi, fysiologi

Citera det här

@article{2b762968b119441297089025ac2ad4ef,
title = "SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy",
keywords = "arthrogryposis, fetal akinesia deformation sequence, multiple pterygium syndrome, vesicular acetylcholine transporter, VESICULAR ACETYLCHOLINE TRANSPORTER, MUTATION, TARGET, MUSK, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "Hakonen, {Anna H.} and Anne Polvi and Carola Saloranta and Anders Paetau and P{\"a}ivi Heikkil{\"a} and Henrikki Almusa and Pekka Ellonen and Eveliina Jakkula and Janna Saarela and Kristiina Aittom{\"a}ki",
year = "2019",
month = "7",
doi = "10.1002/ajmg.a.61186",
language = "English",
volume = "179",
pages = "1362--1365",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",
number = "7",

}

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. / Hakonen, Anna H.; Polvi, Anne; Saloranta, Carola; Paetau, Anders; Heikkilä, Päivi; Almusa, Henrikki; Ellonen, Pekka; Jakkula, Eveliina; Saarela, Janna; Aittomäki, Kristiina.

I: American Journal of Medical Genetics. Part A, Vol. 179, Nr. 7, 07.2019, s. 1362-1365.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

AU - Hakonen, Anna H.

AU - Polvi, Anne

AU - Saloranta, Carola

AU - Paetau, Anders

AU - Heikkilä, Päivi

AU - Almusa, Henrikki

AU - Ellonen, Pekka

AU - Jakkula, Eveliina

AU - Saarela, Janna

AU - Aittomäki, Kristiina

PY - 2019/7

Y1 - 2019/7

KW - arthrogryposis

KW - fetal akinesia deformation sequence

KW - multiple pterygium syndrome

KW - vesicular acetylcholine transporter

KW - VESICULAR ACETYLCHOLINE TRANSPORTER

KW - MUTATION

KW - TARGET

KW - MUSK

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1002/ajmg.a.61186

DO - 10.1002/ajmg.a.61186

M3 - Article

VL - 179

SP - 1362

EP - 1365

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 7

ER -