✦ LIBER ✦

Novel heterozygous mutation c.662_663insG compound with IVS7-2A > G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome

✍ Scribed by Kaitian Chen; Wei Zhou; Ling Zong; Min Liu; Jintao Du; Hongyan Jiang

Book ID: 118454508
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 616 KB
Volume: 76
Category: Article
ISSN: 0165-5876
DOI: 10.1016/j.ijporl.2012.07.035

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel splice-site mutation c.1615-2A>G (

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

✍ Helena Simões-Teixeira; Tiago D. Matos; Marta Canas Marques; Óscar Dias; Mário A 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 923 KB

Pendred syndrome (PDS; OMIM #274600) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the thyroid symptoms are variable [Reardon et al., 1999]. PDS is estimated to account for 5% of childhood deafness, rising t

A novel insertion-induced frameshift mut

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome

✍ Borum Sagong; Jun Ho Seok; Tae-Jun Kwon; Un-Kyung Kim; Sang-Heun Lee; Kyu-Yup Le 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 802 KB

P1.28 Adult onset limb-girdle muscular d

P1.28 Adult onset limb-girdle muscular dystrophy 2I in a Chinese family with novel compound heterozygous mutation of the FKRP gene

✍ D.J. Hong; W. Zhang; Z.X. Wang; Y. Yuan 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 51 KB

A novel heterozygous nonsense mutation o

A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling–Degos disease

✍ L. Guo; X Luo; A Zhao; H Huang; Z Wei; L Chen; S Qin; L Shao; J Xuan; G Feng; C 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

A novel 3017-bp deletion mutation in the

A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome

✍ C. Zhou; S. Song; J. Zhang 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB

Novel heterozygous mutation c.662_663insG compound with IVS7-2A&#xa0;>&#xa0;G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome

Novel heterozygous mutation c.662_663insG compound with IVS7-2A > G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome