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Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

• Authors : Ji, Kunqian; Liu, Kaiming; Lin, Pengfei

Subjects: GENETIC mutation; CHINESE people; CHRONIC progressive external opthalmoplegia

• Source: Neurological Sciences. Mar2014, Vol. 35 Issue 3, p443-448. 6p. 1 Diagram, 1 Chart, 2 Graphs.

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Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease.

• Authors : Jiang, Hua¹ (AUTHOR); Huang, Lv-Yin² (AUTHOR); Zhen, Li² (AUTHOR)

Subjects: *HEMOGLOBIN polymorphisms; *POINT mutation (Biology); *GLOBIN genes

• Source: Hemoglobin. Jul-Nov2017, Vol. 41 Issue 4-6, p293-296. 4p.

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Ode to Kirihito

• Authors : Tezuka, Osamu, 1928-1989

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Clinical utility gene card for: Fabry disease.

• Authors : Gal, Andreas¹; Beck, Michael²; Winchester, Bryan³

Subjects: *DISEASES; *POINT mutation (Biology); *GENETIC mutation

• Source: European Journal of Human Genetics. Feb2012, Vol. 20 Issue 2, p1. 3p. 4 Charts.

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Effect of a single point mutation on equine herpes virus 9 (EHV-9) neuropathogenicity after intranasal inoculation in a hamster model.

• Authors : SALEH, Asmaa G.; ANWAR, Shehata I.; ABAS, Osama M.

Subjects: EQUINE herpesvirus diseases; POINT mutation (Biology); NEUROLOGICAL disorders

• Source: Journal of Veterinary Medical Science; Aug2017, Vol. 79 Issue 8, p1426-1436, 11p

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Nondeletional α-Thalassemia (α2- IVS-1-116, A>G HBA2): An α2 Gene Point Mutation Detected in an African-American Female for the First Time.

• Authors : Dainer, Paul¹; Patel, Niren¹; Zhuang, Lina¹

Subjects: *THALASSEMIA; *POINT mutation (Biology); *AFRICAN American women

• Source: Acta Haematologica. Jun2014, Vol. 132 Issue 1, p22-23. 2p.

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Mutation analysis of key genes in RAS/RAF and PI3K/PTEN pathways in Chinese patients with hepatocellular carcinoma.

• Authors : WENMIN HOU; JIBIN LIU; PEIZHAN CHEN

Subjects: CELLULAR signal transduction; LIVER cancer; CARCINOGENESIS

• Source: Oncology Letters; 2014, Vol. 8 Issue 3, p1249-1254, 6p

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Clinical and Neurophysiological Profile of Four German Families with Spinocerebellar Ataxia Type 14.

• Authors : Ganos, Christos; Zittel, Simone; Minnerop, Martina

Subjects: SPINOCEREBELLAR ataxia; NEUROPHYSIOLOGY; GENETIC disorders

• Source: Cerebellum; Feb2014, Vol. 13 Issue 1, p89-96, 8p

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Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

• Authors : David, Dezső; Marques, Bárbara; Ferreira, Cristina

Subjects: PHALANGES; GENETIC disorders; GENE expression

• Source: Human Genetics; Nov2013, Vol. 132 Issue 11, p1287-1299, 13p

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Identification of a novel HLA-DQB1 allele, HLA-DQB1*06:148, by sequence-based typing in a Chinese individual.

• Authors : Wang, X.‐J.¹; Sun, H.‐Y.¹; Li, Q.‐H.¹

Subjects: *HLA histocompatibility antigens; *SEQUENCE analysis; *POINT mutation (Biology)

• Source: Tissue Antigens. Jun2015, Vol. 85 Issue 6, p514-515. 2p.

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