Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

L  Huopaniemi; H  Tyynismaa; A  Rantala; T  Rosenberg; T  Alitalo

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

L Huopaniemi, H Tyynismaa, A Rantala, T Rosenberg, T Alitalo

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Human Mutation
Volume	16
Pages (from-to)	307-314
Number of pages	8
ISSN	1059-7794
Publication status	Published - 2000
MoE publication type	A1 Journal article-refereed

Fields of Science

retinoschisis, X-linked
genomic deletion
RS1
retinochisis
PPEF-1
serine-threonine phosphatase
STK9
serine-threonine kinase
LINKED JUVENILE RETINOSCHISIS
RETINAL-DEGENERATION
FOUNDER MUTATIONS
KINASE GENE
XLRS1 GENE
EXPRESSION
PROTEIN
PHOSPHATASE
PROMOTER
CLONING
118 Biological sciences

Cite this

Huopaniemi, L., Tyynismaa, H., Rantala, A., Rosenberg, T., & Alitalo, T. (2000). Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Human Mutation, 16, 307-314.

@article{be4ae56716a048568b434e8ce5a08157,

title = "Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families",

keywords = "retinoschisis, X-linked, genomic deletion, RS1, retinochisis, PPEF-1, serine-threonine phosphatase, STK9, serine-threonine kinase, LINKED JUVENILE RETINOSCHISIS, RETINAL-DEGENERATION, FOUNDER MUTATIONS, KINASE GENE, XLRS1 GENE, EXPRESSION, PROTEIN, PHOSPHATASE, PROMOTER, CLONING, 118 Biological sciences, genetiikka",

author = "L Huopaniemi and H Tyynismaa and A Rantala and T Rosenberg and T Alitalo",

year = "2000",

language = "English",

volume = "16",

pages = "307--314",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons, Ltd",

}

TY - JOUR

T1 - Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

AU - Huopaniemi, L

AU - Tyynismaa, H

AU - Rantala, A

AU - Rosenberg, T

AU - Alitalo, T

PY - 2000

Y1 - 2000

KW - retinoschisis, X-linked

KW - genomic deletion

KW - RS1

KW - retinochisis

KW - PPEF-1

KW - serine-threonine phosphatase

KW - STK9

KW - serine-threonine kinase

KW - LINKED JUVENILE RETINOSCHISIS

KW - RETINAL-DEGENERATION

KW - FOUNDER MUTATIONS

KW - KINASE GENE

KW - XLRS1 GENE

KW - EXPRESSION

KW - PROTEIN

KW - PHOSPHATASE

KW - PROMOTER

KW - CLONING

KW - 118 Biological sciences

KW - genetiikka

M3 - Article

VL - 16

SP - 307

EP - 314

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

ER -