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List of works by Muhammad Nasir

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family

scientific article published on 09 June 2009

Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients

scientific article published in September 2004

Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family

scientific article published on 11 November 2014

Characterization of Y-chromosomal short tandem repeat markers in Pakistani populations.

scientific article

Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families

scientific article published on 18 July 2018

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

scientific article published on 13 December 2017

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

scientific article published on 5 July 2017

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

scientific article

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

scientific article published on 18 May 2016

In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.

scientific article

MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family ⬇️

scientific article published on December 7, 2012

Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.

scientific article

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