Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
Standard
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. / Volk, Alexander; Fricke, Julia; Strobl, Judith; Kolling, Gerold; Kubisch, Christian; Neugebauer, Antje.
in: GRAEF ARCH CLIN EXP, Jahrgang 248, Nr. 9, 9, 2010, S. 1351-1357.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
AU - Volk, Alexander
AU - Fricke, Julia
AU - Strobl, Judith
AU - Kolling, Gerold
AU - Kubisch, Christian
AU - Neugebauer, Antje
PY - 2010
Y1 - 2010
N2 - Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.
AB - Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Middle Aged
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - DNA Mutational Analysis
KW - Polymerase Chain Reaction
KW - Genetic Heterogeneity
KW - Mutation
KW - Transcription Factors/genetics
KW - Chimerin 1/genetics
KW - Duane Retraction Syndrome/genetics
KW - Ocular Motility Disorders/genetics
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Middle Aged
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - DNA Mutational Analysis
KW - Polymerase Chain Reaction
KW - Genetic Heterogeneity
KW - Mutation
KW - Transcription Factors/genetics
KW - Chimerin 1/genetics
KW - Duane Retraction Syndrome/genetics
KW - Ocular Motility Disorders/genetics
M3 - SCORING: Journal article
VL - 248
SP - 1351
EP - 1357
JO - GRAEF ARCH CLIN EXP
JF - GRAEF ARCH CLIN EXP
SN - 0721-832X
IS - 9
M1 - 9
ER -