✦ LIBER ✦

Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene

✍ Scribed by Stefan Wieczorek; Larissa Arning; Elke R. Gizewski; Ingrid Alheite; Dagmar Timmann

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 108 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21673

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spinocerebellar ataxia associated with a

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

✍ Esther Brusse; Inge de Koning; Anneke Maat-Kievit; Ben A. Oostra; Peter Heutink; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views

## Abstract Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chrom

A new missense mutation in exon 6 of the

A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease

✍ Chiaki Kawanishi; Hitoshi Osaka; Kenji Owa; Ken Inoue; Tomohiro Miyakawa; Hideki 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 2 views

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of

A missense mutation in the ZFHX1B gene a

A missense mutation in the ZFHX1B gene associated with an atypical Mowat–Wilson syndrome phenotype

✍ Wolfram Heinritz; Christiane Zweier; Ursula G. Froster; Sibylle Strenge; Annegre 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 2 views

A novel missense mutation (Y89C) in exon

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

✍ Rita Padoan; Diana Costantini; Maria Chiara Russo; Antonella Ambrosioni; Sabrina 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 3 views

A missense mutation (F87L) in exon 3 of

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

✍ T. Bienvenu; P. Petitpretz; C. Beldjord; J. C. Kaplan 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 2 views

Exon 6 skipping in the fanconi anemia C

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

✍ Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity