Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report

Maria Arvio; Jaana Lähdetie

doi:10.1002/ajmg.a.61802

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report

Maria Arvio, Jaana Lähdetie

Södra Finlands samarbetsområde

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	American journal of medical genetics. Part A
Volym	182
Nummer	11
Sidor (från-till)	2671-2674
Antal sidor	4
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.61802
Status	Publicerad - nov. 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1002/ajmg.a.61802

Citera det här

@article{ab83a7f7138740a29fd8334bb8704134,

title = "Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report",

keywords = "epileptic encephalopathy subtype 25 (OMIM 615905), Kohlschutter-Tonz syndrome, SLC13A5, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Maria Arvio and Jaana L{\"a}hdetie",

year = "2020",

month = nov,

doi = "10.1002/ajmg.a.61802",

language = "English",

volume = "182",

pages = "2671--2674",

journal = "American journal of medical genetics. Part A",

issn = "1552-4825",

publisher = "Wiley",

number = "11",

}

TY - JOUR

T1 - Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5

T2 - A case report

AU - Arvio, Maria

AU - Lähdetie, Jaana

PY - 2020/11

Y1 - 2020/11

KW - epileptic encephalopathy subtype 25 (OMIM 615905)

KW - Kohlschutter-Tonz syndrome

KW - SLC13A5

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1002/ajmg.a.61802

DO - 10.1002/ajmg.a.61802

M3 - Article

SN - 1552-4825

VL - 182

SP - 2671

EP - 2674

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 11

ER -