Clinical picture of homozygous c.1943G > A mutation in the WFS1 gene in a girl with Wolfram syndrome

G. Taurina; M. Kreile; I. Micule; A. Boluza; I. Kirillova; I. Dzivite Krisane; D. Bauze; I. Malniece

Clinical picture of homozygous c.1943G > A mutation in the WFS1 gene in a girl with Wolfram syndrome

G. Taurina
, M. Kreile
, I. Micule
, A. Boluza
, I. Kirillova
, I. Dzivite Krisane
, D. Bauze
, I. Malniece

Rīga Stradiņš University

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Article number	E-P03.38
Pages (from-to)	868-868
Journal	European Journal of Human Genetics
Volume	26
Publication status	Published - Oct 2018
Event	50th European Society of Human Genetics (ESHG) Conference - Copenhagen, Denmark Duration: 27 May 2017 → 30 May 2017 Conference number: 50

Keywords*

Biochemistry
Molecular Biology
genetics
Heredity

Field of Science*

1.6 Biological sciences
3.2 Clinical medicine

Publication Type*

3.3. Publications in conference proceedings indexed in Web of Science and/or Scopus database

Cite this

@article{4f4b42c5bb644ff4ad75d90e5f5cffb0,

title = "Clinical picture of homozygous c.1943G > A mutation in the WFS1 gene in a girl with Wolfram syndrome",

keywords = "Biochemistry, Molecular Biology, genetics, Heredity",

author = "G. Taurina and M. Kreile and I. Micule and A. Boluza and I. Kirillova and Krisane, \{I. Dzivite\} and D. Bauze and I. Malniece",

year = "2018",

month = oct,

language = "English",

volume = "26",

pages = "868--868",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

note = "50th European Society of Human Genetics (ESHG) Conference, ESHG ; Conference date: 27-05-2017 Through 30-05-2017",

}

TY - JOUR

T1 - Clinical picture of homozygous c.1943G > A mutation in the WFS1 gene in a girl with Wolfram syndrome

AU - Taurina, G.

AU - Kreile, M.

AU - Micule, I.

AU - Boluza, A.

AU - Kirillova, I.

AU - Krisane, I. Dzivite

AU - Bauze, D.

AU - Malniece, I.

N1 - Conference code: 50

PY - 2018/10

Y1 - 2018/10

KW - Biochemistry

KW - Molecular Biology

KW - genetics

KW - Heredity

UR - https://www-webofscience-com.db.rsu.lv/wos/alldb/full-record/WOS:000489312607106

M3 - Meeting Abstract

SN - 1018-4813

VL - 26

SP - 868

EP - 868

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

M1 - E-P03.38

T2 - 50th European Society of Human Genetics (ESHG) Conference

Y2 - 27 May 2017 through 30 May 2017

ER -

Clinical picture of homozygous c.1943G > A mutation in the WFS1 gene in a girl with Wolfram syndrome

Keywords*

Field of Science*

Publication Type*

Other files and links

Cite this