✦ LIBER ✦

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

✍ Scribed by K.T Abe; A.M.M Lino; M.T.A Hirata; R.C.M Pavanello; M.W.I Brotto; P.E Marchiori; M Zatz

Book ID: 116792163
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 306 KB
Volume: 14
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2004.01.007

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A stop-codon mutation in the BRI gene as

A stop-codon mutation in the BRI gene associated with familial British dementia

✍ Ghiso, Jorge; Vidal, Ruben; Frangione, Blas; Rostagno, Agueda; Mead, Simon; Révé 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 421 KB

A novel point mutation in the PMP22 gene

A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome

✍ S. Zubair; N. R. Holland; B. Beson; J. T. Parke; C. I. Prodan 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 149 KB

Four novel point mutations in the PMP22

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

✍ Dana Brožková; Radim Mazanec; Zdeněk Rychlý; Jana Haberlová; Jiří Böhm; Jan Stan 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB

## Abstract We report four novel point mutations in the __PMP22__ gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi

REPORT of a novel mutation in the PMP22

REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy

✍ Burkhard Gess; Astrid Jeibmann; Anja Schirmacher; Ilka Kleffner; Matthias Schill 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 751 KB

## Abstract Introduction: Point mutations in the peripheral myelin protein 22 (__PMP22__) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Meth

A comment on novel mutation in the PMP22

A comment on novel mutation in the PMP22 gene causing an axonal neuropathy

✍ Viroj Wiwanitkit 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB

Mitochondrial Encephalomyopathy and Comp

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

✍ J. Andrew Keightley; Roberto Anitori; Miriam D. Burton; Franklin Quan; Neil R.M. 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 673 KB