✦ LIBER ✦

A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene

✍ Scribed by Krzysztof Majchrzak; Cezary Cybulski; Barbara Bobek-Billewicz; Henryk Majchrzak; Jan Lubiński

Publisher: Springer Milan
Year: 2011
Tongue: English
Weight: 824 KB
Volume: 32
Category: Article
ISSN: 1590-1874
DOI: 10.1007/s10072-011-0502-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation of the tissue-

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia

✍ N. Sugimoto; Sadahiko Iwamoto; Yuichi Hoshino; Eiji Kajii 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 541 KB

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

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

First case of missense mutation (LDH-H:R

First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient

✍ K. Hidaka; Naoki Ueda; Ikuo Hirata; Yoko Watanabe; Yosuke Minatogawa; Iwao Iuchi 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 95 KB

Mutational analysis of the cystathionine

Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

✍ Ross B. Gordon; Anthony J. Cox; Paul A. Dawson; Bryan T. Emmerson; Jan P. Kraus; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views

RT-PCR and direct sequence analyses were used to define mutations in the cystathionine b -synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternall

Novel missense mutation (W686C) of the p

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII

✍ Tomoya Hamaguchi; Hiromu Nakajima; Tamio Noguchi; Chisa Nakagawa; Masamichi Kuwa 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 250 KB 👁 3 views