A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
about
Genetic studies of the Roma (Gypsies): a reviewA first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.Origins and divergence of the Roma (gypsies)Molecular organization of sarcoglycan complex in mouse myotubes in culturePrivate beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyNemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from IndiaGenetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Making sense of the limb-girdle muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.Sarcoglycans in muscular dystrophy.Mutation history of the roma/gypsies.A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesReengineering a transmembrane protein to treat muscular dystrophy using exon skippingModifying muscular dystrophy through transforming growth factor-β.Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.Epidemiology of muscular dystrophies in the Mediterranean area.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateClinical applications and implications of common and founder mutations in Indian subpopulations.Costamere proteins and their involvement in myopathic processes.Prenatal diagnosis of congenital myopathies and muscular dystrophies.[Myology and ethnic minorities: all roads lead to the Roma].Carrier rates of four single-gene disorders in Croatian Bayash Roma.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy
P2860
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P2860
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A founder mutation in the gamm ...... g their migration out of India
@ast
A founder mutation in the gamm ...... g their migration out of India
@en
A founder mutation in the gamm ...... g their migration out of India
@nl
type
label
A founder mutation in the gamm ...... g their migration out of India
@ast
A founder mutation in the gamm ...... g their migration out of India
@en
A founder mutation in the gamm ...... g their migration out of India
@nl
prefLabel
A founder mutation in the gamm ...... g their migration out of India
@ast
A founder mutation in the gamm ...... g their migration out of India
@en
A founder mutation in the gamm ...... g their migration out of India
@nl
P2093
P356
P1476
A founder mutation in the gamm ...... g their migration out of India
@en
P2093
J A Urtizberea
J C Kaplan
J S Beckmann
K P Campbell
P304
P356
10.1093/HMG/5.12.2019
P407
P577
1996-12-01T00:00:00Z