Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program

Chromosome 5q related Spinal muscular atrophy (SMA) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of SMN1 gene. Being the leading genetic cause of infant mortality, studies of its prevalence and incidence are nece...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	American journal of medical genetics. Part A 2021-01, Vol.185 (1), p.274-277
Hauptverfasser:	Nilay, Mayank, Moirangthem, Amita, Saxena, Deepti, Mandal, Kausik, Phadke, Shubha R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Catchment areas Chromosome 5 Exons Gene deletion Hereditary diseases Infant mortality Neuromuscular diseases SMN protein Spinal muscular atrophy
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!