✦ LIBER ✦

A missense mutation in the bovineMGFgene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle

✍ Scribed by Jeffrey J. Seitz; Sheila M. Schmutz; Tracey D. Thue; Fiona C. Buchanan

Publisher: Springer-Verlag
Year: 1999
Tongue: English
Weight: 455 KB
Volume: 10
Category: Article
ISSN: 0938-8990
DOI: 10.1007/s003359901076

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Benign SCA14 phenotype in a German patie

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

✍ Stefan Wieczorek; Larissa Arning; Elke R. Gizewski; Ingrid Alheite; Dagmar Timma 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 1 views

A missense mutation in the OCTN2 gene as

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

✍ Yuhuan Wang; Michelle A. Kelly; Tina M. Cowan; Nicola Longo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB 👁 2 views

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease can present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal or cardiac myopathy. Mutations abol

A missense mutation of the muscle glycog

A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population

✍ H. Shimomura; T. Sanke; K. Ueda; T. Hanabusa; S. Sakagashira; K. Nanjo 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 137 KB

Phosphorylase-kinase-deficient liver gly

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB)

✍ Barbara Burwinkel; Shimon W. Moses; M. W. Kilimann 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 74 KB

A novel long-QT 5 gene mutation in the C

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype

✍ Eric Schulze-Bahr; Martin Schwarz; Susanne Hoffmann; Horst Wedekind; Harald Funk 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 107 KB