✦ LIBER ✦

Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme

✍ Scribed by Thomas Dierks; Bernhard Schmidt; Ljudmila V. Borissenko; Jianhe Peng; Andrea Preusser; Malaiyalam Mariappan; Kurt von Figura

Book ID: 117269515
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 285 KB
Volume: 113
Category: Article
ISSN: 0092-8674
DOI: 10.1016/s0092-8674(03)00347-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal Recessive Phosphorylase Kinase

Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB)

✍ Inge E.T. van den Berg; Ellen A.C.M. van Beurden; Johannis B.C. de Klerk; Otto P 📂 Article 📅 1997 🏛 American Society of Human Genetics 🌐 English ⚖ 784 KB

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogen

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

✍ Rob Ofman; P.N. Jos Ruiter; Marike Feenstra; Marinus Duran; Tien Bwee Poll-The; 📂 Article 📅 2003 🏛 American Society of Human Genetics 🌐 English ⚖ 329 KB

Total colourblindness is caused by mutat

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

✍ Wissinger, Bernd; Kohl, Susanne; Marx, Tim; Giddings, Ian; Jägle, Herbert; Jacob 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 251 KB

Nonsense mutation in exon 4 of human com

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

✍ R. Kira; Kenji Ihara; Hidetoshi Takada; Kenjiro Gondo; Toshiro Hara 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 91 KB

Tibial Muscular Dystrophy Is a Titinopat

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

✍ Peter Hackman; Anna Vihola; Henna Haravuori; Sylvie Marchand; Jaakko Sarparanta; 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 483 KB

The myopathic form of coenzyme Q10 defic

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

✍ Gempel, K.; Topaloglu, H.; Talim, B.; Schneiderat, P.; Schoser, B. G. H.; Hans, 📂 Article 📅 2007 🏛 Oxford University Press 🌐 English ⚖ 513 KB