✦ LIBER ✦

Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy

✍ Scribed by Takashi Tsuda; Yoriyasu Hasegawa; Yoshikatsu Eto

Book ID: 117980949
Publisher: Elsevier Science
Year: 1996
Tongue: English
Weight: 380 KB
Volume: 18
Category: Article
ISSN: 0387-7604
DOI: 10.1016/0387-7604(96)00041-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prevalence of arylsulphatase A mutations

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations

✍ K. Kurosawa; H. Ida; Y. Eto 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 32 KB

0210 A novel gene mutation in Japanese p

0210 A novel gene mutation in Japanese pedigree of late-adult onset metachromatic leukodystrophy

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 255 KB

An 11-bp deletion in the arylsulfatase A

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

✍ Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 572 KB

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts

A D255H substitution in the arylsulphata

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

✍ W. Lissens; R. Vervoort; N. Van Regemorter; P. Van Bogaert; M. Freund; C. Verell 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 427 KB

The accumulation of cerebroside sulfates

The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukodystrophy

✍ Myna T. Porter; Arvan L. Fluharty; Sandra E. Harris; Hayato Kihara 📂 Article 📅 1970 🏛 Elsevier Science 🌐 English ⚖ 594 KB

S2.28 Mutations in the arylsulfatase a g

S2.28 Mutations in the arylsulfatase a gene of two patients with metachromatic leukodystrophy

✍ K. Honke; T. Kobayashi; R. Kondo; S. Tsuji; A. Makita 📂 Article 📅 1993 🏛 Springer US 🌐 English ⚖ 126 KB