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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334..:
Polavarapu, Kiran
;
Mathur, Aradhna
;
Joshi, Aditi
...
neurogenetics. 22 (2021) 4 - p. 271-285 , 2021
Link:
https://doi.org/10.1007/s10048-021-00658-1
RT Journal T1
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s10048-021-00658-1&Exemplar=1&LAN=DE A1 Polavarapu, Kiran A1 Mathur, Aradhna A1 Joshi, Aditi A1 Nashi, Saraswati A1 Preethish-Kumar, Veeramani A1 Bardhan, Mainak A1 Sharma, Pooja A1 Parveen, Shaista A1 Seth, Malika A1 Vengalil, Seena A1 Chawla, Tanushree A1 Shingavi, Leena A1 Shamim, Uzma A1 Nayak, Sushmita A1 Vivekanand, A. A1 Töpf, Ana A1 Roos, Andreas A1 Horvath, Rita A1 Lochmüller, Hanns A1 Nandeesh, Bevinahalli A1 Arunachal, Gautham A1 Nalini, Atchayaram A1 Faruq, Mohammed PB Springer Science and Business Media LLC YR 2021 SN 1364-6745 SN 1364-6753 JF neurogenetics VO 22 IS 4 SP 271 OP 285 LK http://dx.doi.org/https://doi.org/10.1007/s10048-021-00658-1 DO https://doi.org/10.1007/s10048-021-00658-1 SF ELIB - SuUB Bremen
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