✦ LIBER ✦

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

✍ Scribed by Cadieux-Dion, M; Andermann, E; Lachance-Touchette, P; Ansorge, O; Meloche, C; Barnabé, A; Kuzniecky, RI; Andermann, F; Faught, E; Leonberg, S; Damiano, JA; Berkovic, SF; Rouleau, GA; Cossette, P

Book ID: 127276647
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 611 KB
Volume: 83
Category: Article
ISSN: 0009-9163
DOI: 10.1111/cge.12020

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal dominant Kufs' disease: a caus

Autosomal dominant Kufs' disease: a cause of early onset dementia

✍ S.A. Josephson; R.E. Schmidt; P. Millsap; D.Q. McManus; J.C. Morris 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 651 KB

Mutations in DNAJC5, Encoding Cysteine-S

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

✍ Lenka Nosková; Viktor Stránecký; Hana Hartmannová; Anna Přistoupilová; Veronika 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 29 KB

Mutations in PCSK9 cause autosomal domin

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

✍ Abifadel, Marianne; Varret, Mathilde; Rabès, Jean-Pierre; Allard, Delphine; Ougu 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 133 KB

Mutations in PCSK9 cause autosomal domin

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

✍ Abifadel, Marianne; Varret, Mathilde; Rabès, Jean-Pierre; Allard, Delphine; Ougu 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 133 KB

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipo

Mutations in PDGFRB Cause Autosomal-Domi

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

✍ Martignetti, John A.; Tian, Lifeng; Li, Dong; Ramirez, Maria Celeste M.; Camacho 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 918 KB

Mutations in TSPAN12 Cause Autosomal-Dom

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

✍ James A. Poulter; Manir Ali; David F. Gilmour; Aine Rice; Hiroyuki Kondo; Kenshi 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 515 KB