✦ LIBER ✦

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

✍ Scribed by Matías Morín; Antonio Viñuela; Teresa Rivera; Manuela Villamar; Miguel A. Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 153 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32181

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo mutation in the gene encoding co

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

✍ Araceli Álvarez; Ignacio del Castillo; Alejandra Pera; Manuela Villamar; Miguel 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 2 views

A de novo missense mutation (R1623Q) of

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

✍ Hiroyuki Yamagishi; Michiko Furutani; Mitsuhiro Kamisago; Yoshiyuki Morikawa; Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c

Novel mutation in the gene encoding the

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

✍ Alba M. Hernández; Manuela Villamar; Lidia Roselló; Miguel A. Moreno-Pelayo; Fel 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

A novel heteroplasmic point mutation in

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

✍ Massoud Houshmand; Christopher Lindberg; Ali-Reza Moslemi; Anders Oldfors; Elisa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 459 KB 👁 2 views

We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control

A novel mutation in the gene encoding TI

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

✍ Luis A. Aguirre; Ignacio del Castillo; Alfons Macaya; Carme Medá; Manuela Villam 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 2 views

A new case of HDR syndrome with severe f

A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations” by Hernández et al.

✍ Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 2 views