Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region

Abstract Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of th...

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Autors principals:	Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-11-01
Col·lecció:	BMC Medical Genomics
Matèries:	Spinal muscular atrophy (SMA) Telomere attrition Telomere length Survival Motor Neuron
Accés en línia:	https://doi.org/10.1186/s12920-024-01980-x
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