Cargando…

Erratum: Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran

Detalles Bibliográficos
Autores principales:	Heshmati, Ali, Taghizadeh, Peyman, Ahmadieh, Hamid, Yaseri, Mehdi, Suri, Fatemeh, Alizadeh, Mahsa, Dadashzadeh, Marjan, Khatami, Hajar, Navi, Monireh Moradkhah, Zamanparvar, Parisa, Behboudi, Hassan, Elahi, Elahe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PUBLISHED BY KNOWLEDGE E 2022
Materias:	Erratum
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9185197/ https://www.ncbi.nlm.nih.gov/pubmed/35765627 http://dx.doi.org/10.18502/jovr.v17i2.10809

Ejemplares similares

Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran
por: Heshmati, Ali, et al.
Publicado: (2021)

P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran
por: Qashqai, Mansoure, et al.
Publicado: (2018)

Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu
por: Rodriguez-Paris, Juan, et al.
Publicado: (2016)

Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
por: Watanabe, Daisuke, et al.
Publicado: (2023)

Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
por: Wang, Yangyang, et al.
Publicado: (2019)

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation
por: Kim, Myung-Jin, et al.
Publicado: (2016)

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
por: Park, Yoonhong, et al.
Publicado: (2014)

FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma
por: Akdeniz Odemis, Demet, et al.
Publicado: (2020)

Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome
por: Lorca, Rebeca, et al.
Publicado: (2020)

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls
por: Erer, B, et al.
Publicado: (2015)

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
por: Rojas Malaga, Diana, et al.
Publicado: (2019)

Sudden Cardiac Death Caused by a Fatal Association of Hypertrophic Cardiomyopathy (MYH7, p.Arg719Trp), Heterozygous Familial Hypercholesterolemia (LDLR, p.Gly343Lys) and SARS-CoV-2 B.1.1.7 Infection
por: Marziliano, Nicola, et al.
Publicado: (2021)

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
por: Nabavi Nouri, Maryam, et al.
Publicado: (2018)

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series
por: Tabata, Tomoka, et al.
Publicado: (2021)

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
por: Niel-Butschi, Florence, et al.
Publicado: (2011)

Run 368 P
por: Colchester, R J
Publicado: (1973)

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
por: Blanco-Kelly, Fiona, et al.
Publicado: (2016)

The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy
por: van der Heijden, J. F., et al.
Publicado: (2013)

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
por: Yamamoto, Jumpei, et al.
Publicado: (2021)

Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation
por: Ganapathi, Shireen S., et al.
Publicado: (2021)

Structural and Population-Based Evaluations of TBC1D1 p.Arg125Trp
por: Richardson, Tom G., et al.
Publicado: (2013)

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
por: Subramony, SH, et al.
Publicado: (2013)

Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His
por: Shteinberg, Michal, et al.
Publicado: (2017)

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence
por: Seidinger, Ana L., et al.
Publicado: (2020)

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
por: Cuello, Friederike, et al.
Publicado: (2021)

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers
por: de Brouwer, Remco, et al.
Publicado: (2023)

Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism
por: Sadhukhan, Dipanwita, et al.
Publicado: (2020)

Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease
por: Park, Sihyung, et al.
Publicado: (2020)

Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis
por: Milanowski, Lukasz M., et al.
Publicado: (2022)

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
por: van der Zwaag, P. A., et al.
Publicado: (2013)

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
por: Strauss, Kevin A., et al.
Publicado: (2014)

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
por: Hwang, Ji-won, et al.
Publicado: (2017)

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
por: Antoniutti, Guido, et al.
Publicado: (2022)

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
por: Sriprakoon, Vachiravit, et al.
Publicado: (2022)

The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer
por: Akbari, Mohammad R., et al.
Publicado: (2012)

Frequency of KRAS p.Gly12Cys Mutation in Brazilian Patients With Lung Cancer
por: Cavagna, Rodrigo, et al.
Publicado: (2021)

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report
por: Terrier, Benjamin, et al.
Publicado: (2017)

p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies
por: Diakite, Brehima, et al.
Publicado: (2020)

The p.Arg63Trp polymorphism controls Vav1 functions and Foxp3 regulatory T cell development
por: Colacios, Céline, et al.
Publicado: (2011)

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
por: Jang, Mi-Ae, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_ukobfpqa6hgcteg4eou00a5ogh