A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

Autor: Preiksaitiene E, Caro A, Benušiene E, Oltra S, Orellana C, Morkuniene A, Roselló MP, Kasnauskiene J, Monfort S, Kucinskas V, Mayo S, Martinez F

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

The NSDHL gene encodes 3-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-link

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::620fa08c713c7a6ff0d6953ed6cae715
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1811

The molecular basis of phenylketonuria in Lithuania

Autor: Kasnauskiene, J., Giannattasio, S., Paolo LATTANZIO, Cimbalistiene, L., Kucinskas, V.

Publikováno v: Human mutation 21 (2003): 398–403.
info:cnr-pdr/source/autori:Kasnauskiene J., Giannattasio S., Lattanzio P., Cimbalistiene L., Kuèinskas V./titolo:The molecular basis of phenylketonuria in Lithuania./doi:/rivista:Human mutation/anno:2003/pagina_da:398/pagina_a:403/intervallo_pagine:398–403/volume:21
Scopus-Elsevier

We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ce7e5eda44747bad72a3ac4518194b
https://pubmed.ncbi.nlm.nih.gov/12655550

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Two New de novo Interstitial Duplications Covering 2p14-p22.1: Clinical and Molecular Analysis.

Autor: Kasnauskiene, J., Cimbalistiene, L., Utkus, A., Ciuladaite, Z., Preiksaitiene, E., Pečiulytė, A., Kučinskas, V.

Publikováno v: Cytogenetic & Genome Research; 2012, Vol. 139 Issue 1, p52-58, 7p, 2 Black and White Photographs, 1 Chart, 1 Graph