Homozygous E387K (1159G > A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report

Number of the records: 1

Title	Homozygous E387K (1159G > A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report
Author	Vogt Gábor
Co-authors	Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ^ORCID
	Czeizel Endre

Source document	Orvosi hetilap. Vol. 155 ,iss. 33 (2014), p.1325-1328
Language	hun - Hungarian
Document kind	rozpis článkov z periodík (rbx)
Citations	LASZLO, Nanassy - GYONGYVER, Teglas - MARIANNA, Csenki - ATTILA, Vereczkey. Unaffected child born following preimplantation genetic diagnosis with karyomapping. In ORVOSI HETILAP. ISSN 0030-6002, 2016, vol. 157, no. 51, pp. 2048-2050.
	CHOUITER, Leila - NADIFI, Sellama. Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma. In JOURNAL OF PEDIATRIC GENETICS. ISSN 2146-4596, 2017, vol. 6, no. 4, pp. 205-214.
	HADDAD, Amine - AIT BOUJMIA, Oum Kaltoum - EL MAALOUM, Loubna - DEHBI, Hind. Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. In EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2021, vol. 31, no. 6, pp. 2796-2807. ISSN 1120-6721. Dostupné na: https://doi.org/10.1177/11206721211016308.
Category	ADMB - Scientific papers in foreign non-impacted journals registered in Web of Sciences or Scopus
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	článok
Year	2014
Registered in	WOS
Registered in	SCOPUS
DOI	10.1556/OH.2014.29960

article

rok	CC	IF	IF Q (best)	JCR Av Jour IF Perc	SJR	SJR Q (best)	CiteScore
	N

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2014	2013			0.162	Q3

Number of the records: 1