2013
DOI: 10.1016/j.gene.2012.12.005
|View full text |Cite
|
Sign up to set email alerts
|

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1

Citation Types

2
13
0

Year Published

2013
2013
2021
2021

Publication Types

Select...
4
3

Relationship

0
7

Authors

Journals

citations
Cited by 17 publications
(15 citation statements)
references
References 13 publications
2
13
0
Order By: Relevance
“…The diagnosis of FOP is a clinical one and mutational analysis remains a confirmatory study once the diagnosis is suspected [1, 8]. Our data show that the frequency of FOP variant individuals from China is similar to that reported elsewhere in the world [7, 9, 23,24,2631], and supports the fidelity of this rare disorder across wide racial, ethnic, gender and geographic distributions.…”
Section: Discussionsupporting
confidence: 78%
“…The diagnosis of FOP is a clinical one and mutational analysis remains a confirmatory study once the diagnosis is suspected [1, 8]. Our data show that the frequency of FOP variant individuals from China is similar to that reported elsewhere in the world [7, 9, 23,24,2631], and supports the fidelity of this rare disorder across wide racial, ethnic, gender and geographic distributions.…”
Section: Discussionsupporting
confidence: 78%
“…This allele has also been identified in several countries including South Africa, Korea, Spain, Italy, and Turkey (Bocciardi et al, 2009;Lee et al, 2009;Dandara et al, 2012;Morales-Piga et al, 2012;Eresen Yazıcıoglu et al, 2013). Our identification of the c.617G>A; p.Arg206His allele in 12 individuals, combined with the previous report of three Indian patients (Shukla et al, 2013), suggests that in India most cases of FOP result from this allelic variant.…”
Section: Discussionsupporting
confidence: 71%
“…She developed rapidly progressive heterotopic ossification at 12 years of age. Other novel alleles have also been described from specific regions around the world, for example, c.774G>T; p.Arg258Ser in Turkey, Spain, and Morocco (Ratbi et al, 2010;Morales-Piga et al, 2012;Eresen Yazıcıoglu et al, 2013), c.605G>T; p.Arg202Ile in the United Kingdom (Petrie et al, 2009), and c.983G>A; p.Gly328Glu in Brazil (Connor & Evans, 1982;Kaplan et al, 2009;Carvalho et al, 2010;Stefanova et al, 2012). All of these reported variant alleles were found between exons 6 and 9 of ACVR1 (Table 2).…”
Section: Discussionmentioning
confidence: 90%
See 2 more Smart Citations