Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

[1]  Yaqing Guo,et al.  Identification of phenylketonuria patient genotypes using single-gene full-length sequencing , 2022, Human genomics.

[2]  C. Yin,et al.  Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria , 2021, Human mutation.

[3]  P. Gunaratne,et al.  A noncoding RNA modulator potentiates phenylalanine metabolism in mice , 2021, Science.

[4]  H. Pan,et al.  Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families , 2021, Chinese medical journal.

[5]  Xueshan Xiao,et al.  A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome , 2020, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

[6]  Shangzhi Huang,et al.  [Clinical practice guidelines for phenylketonuria]. , 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[7]  A. Drousiotou,et al.  A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease , 2020, Molecular genetics & genomic medicine.

[8]  Bicheng Yang,et al.  [Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province]. , 2019, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[9]  O. Ohara,et al.  A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). , 2019, Clinical immunology.

[10]  F. Cremers,et al.  Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 , 2019, Human mutation.

[11]  Shyr‐Yi Lin,et al.  Deep intronic variant c.5999‐277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA , 2019, European journal of haematology.

[12]  X. Kong,et al.  [Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province]. , 2018, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[13]  N. Blau,et al.  Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. , 2018, Clinica chimica acta; international journal of clinical chemistry.

[14]  F. Cremers,et al.  Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. , 2018, American journal of human genetics.

[15]  X. Kong,et al.  Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China , 2017, BMC Medical Genetics.

[16]  M. Carmo-Fonseca,et al.  Deep intronic mutations and human disease , 2017, Human Genetics.

[17]  Edward L. Huttlin,et al.  Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. , 2017, American journal of human genetics.

[18]  C. Preece,et al.  An Intronic Flk1 Enhancer Directs Arterial-Specific Expression via RBPJ-Mediated Venous Repression , 2016, Arteriosclerosis, thrombosis, and vascular biology.

[19]  Jun Zhu,et al.  Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing , 2015, Scientific Reports.

[20]  M. Baumgartner,et al.  Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells , 2015, Nucleic acids research.

[21]  M. Kabra,et al.  Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India , 2014, Journal of cellular biochemistry.

[22]  S. Kudo,et al.  Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan , 2011, Journal of Human Genetics.

[23]  N. Blau,et al.  The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. , 2011, Molecular genetics and metabolism.

[24]  G. Ast,et al.  Alternative splicing and evolution: diversification, exon definition and function , 2010, Nature Reviews Genetics.

[25]  L. D. Schroeder,et al.  The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homocystinuria , 2010, Human mutation.

[26]  Dong Hwan Lee,et al.  Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria , 2008, Experimental & Molecular Medicine.

[27]  Kevin R. Thornton,et al.  The origin of new genes: glimpses from the young and old , 2003, Nature Reviews Genetics.

[28]  C. Aulehla‐Scholz,et al.  Mutational spectrum in German patients with phenylalanine hydroxylase deficiency , 2003, Human mutation.

[29]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[30]  S. Cederbaum.  Phenylketonuria: an update. , 2002, Current opinion in pediatrics.

[31]  C. Scriver.  Phenylketonuria--genotypes and phenotypes. , 1991, The New England journal of medicine.