Biallelic truncating   SCN9A   mutation identified in four families with congenital insensitivity to pain from Pakistan | Zendy

Sawal H.A. | Zendy; Harripaul R. | Zendy; Mikhailov A. | Zendy; Dad R. | Zendy; Ayub M. | Zendy; Jawad Hassan M. | Zendy; Vincent J.B. | Zendy

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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.

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