Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Luca Trotta, Timo Hautala, Sari Hamalainen, Jaana Syrjanen, Hanna Viskari, Henrikki Almusa, Maija Lepisto, Meri Kaustio, Kimmo Porkka, Aarno Palotie, Mikko Seppanen, Janna Saarela

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftEuropean Journal of Human Genetics
Volym24
Utgåva10
Sidor (från-till)1473-1478
Antal sidor6
ISSN1018-4813
DOI
StatusPublicerad - okt 2016
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 1182 Biokemi, cell- och molekylärbiologi
  • 1184 Genetik, utvecklingsbiologi, fysiologi
  • 3111 Biomedicinska vetenskaper

Citera det här

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title = "Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland",
keywords = "INDUCED CYTIDINE DEAMINASE, FINNISH-DISEASE HERITAGE, CARTILAGE-HAIR HYPOPLASIA, GENETIC-ANALYSIS, HUMAN GENOME, AID, DEFICIENCY, TOLERANCE, PHENOTYPE, UPDATE, 1182 Biochemistry, cell and molecular biology, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",
author = "Luca Trotta and Timo Hautala and Sari Hamalainen and Jaana Syrjanen and Hanna Viskari and Henrikki Almusa and Maija Lepisto and Meri Kaustio and Kimmo Porkka and Aarno Palotie and Mikko Seppanen and Janna Saarela",
year = "2016",
month = "10",
doi = "10.1038/ejhg.2016.37",
language = "English",
volume = "24",
pages = "1473--1478",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "10",

}

Enrichment of rare variants in population isolates : single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. / Trotta, Luca; Hautala, Timo; Hamalainen, Sari; Syrjanen, Jaana; Viskari, Hanna; Almusa, Henrikki; Lepisto, Maija; Kaustio, Meri; Porkka, Kimmo; Palotie, Aarno; Seppanen, Mikko; Saarela, Janna.

I: European Journal of Human Genetics, Vol. 24, Nr. 10, 10.2016, s. 1473-1478.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Enrichment of rare variants in population isolates

T2 - single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

AU - Trotta, Luca

AU - Hautala, Timo

AU - Hamalainen, Sari

AU - Syrjanen, Jaana

AU - Viskari, Hanna

AU - Almusa, Henrikki

AU - Lepisto, Maija

AU - Kaustio, Meri

AU - Porkka, Kimmo

AU - Palotie, Aarno

AU - Seppanen, Mikko

AU - Saarela, Janna

PY - 2016/10

Y1 - 2016/10

KW - INDUCED CYTIDINE DEAMINASE

KW - FINNISH-DISEASE HERITAGE

KW - CARTILAGE-HAIR HYPOPLASIA

KW - GENETIC-ANALYSIS

KW - HUMAN GENOME

KW - AID

KW - DEFICIENCY

KW - TOLERANCE

KW - PHENOTYPE

KW - UPDATE

KW - 1182 Biochemistry, cell and molecular biology

KW - 1184 Genetics, developmental biology, physiology

KW - 3111 Biomedicine

U2 - 10.1038/ejhg.2016.37

DO - 10.1038/ejhg.2016.37

M3 - Article

VL - 24

SP - 1473

EP - 1478

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 10

ER -