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PMID: 25685524
El-Falaki MM, Shahin WA, El-Basha NR, Ali AA, Mehaney DA, El-Attar MM
Profile of cystic fibrosis in a single referral center in Egypt.
J Adv Res. 2014 Sep;5(5):563-8. doi: 10.1016/j.jare.2013.07.005. Epub 2013 Jul 15.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
130
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 25685524:130:259
status:
NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Ile1234Val
X
ABCC7 p.Ile1234Val 25685524:130:242
status:
NEW
view ABCC7 p.Ile1234Val details
In some cases, these more frequent mutations may be specific for a subset of the people in the Middle East defined by a common ethnic or religious background, e.g., the 1548delG mutation in Saudi Arabia [18,26], Bedouin tribes in the case of
I1234V
[27], the
S549R
(T > G) mutation in Bedouins from the United Arab Emirates and Oman [21], and the 548A > T mutation in Bahrain [28].
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