✦ LIBER ✦

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype

✍ Scribed by Toshihiro Yoshizawa; Yutaka Kohno; Sumiko Nissato; Shin'ichi Shoji

Book ID: 119465552
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 434 KB
Volume: 195
Category: Article
ISSN: 0022-510X
DOI: 10.1016/s0022-510x(02)00007-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two small deletion mutations of the HEXB

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

✍ McInnes, Beth; Brown, Charlotte A.; Mahuran, Don J. 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 371 KB

Significance of two point mutations pres

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) Homozygosity for the Ile207 → Val substitution is not associated with a clinical or biochemical phenotype

✍ Isabelle Redonnet-Vernhet; Don J. Mahuran; Robert Salvayre; Frédéric Dubas; Thie 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 714 KB

Rupture of the middle cerebral artery an

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

✍ Peric, S.; Fumic, K.; Bilic, K.; Reuser, A.; Rakocevic Stojanovic, V. 📂 Article 📅 2013 🏛 Royal Association of Belgian Medical Scientific So 🌐 English ⚖ 133 KB