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Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan
Author(s) -
Sawal H.A.,
Harripaul R.,
Mikhailov A.,
Dad R.,
Ayub M.,
Jawad Hassan M.,
Vincent J.B.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12860
Subject(s) - missense mutation , nonsense , mutation , genetics , nonsense mutation , identification (biology) , biology , gene , botany
(a) Homozygosity‐mapping‐by‐descent of four Bhakkar congenital indifference/insensitivity to pain ( CIP ) families. (b) Identification of mutation Met1190* in SCN9A . (c) SCN9A / NaV1 .7 2D structure (as predicted by CCTOP and SMART ) and approximate position of known nonsense (*) and missense (M) mutations ( www.hgmd.cf.ac.uk ), as well as the Bhakkar mutation (this study) in red.