𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Fabry disease: Detection of 13-bp deletion in α-galactosidase a gene and its application to gene diagnosis of heterozygotes

✍ Scribed by Dr Satoshi Ishii; Hitoshi Sakuraba; Michie Shimmoto; Reiko Minamikawa-Tachino; Tadashi Suzuki; Yoshiyuki Suzuki

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
583 KB
Volume
29
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Fabry disease: Detection of gene rearran
Fabry disease: Detection of gene rearrangements in the human α-Galactosidase A Gene by Multiplex PCR Amplification
✍ Ruth Kornreich; Robert J. Desnick 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 360 KB

Fabry disease, an X-linked recessive disorder of glycosphingolipid catabolism, results from lesions in the alpha-galactosidase A gene leading to deficient or absent activity of the lysosomal hydrolase. To facilitate the detection of rearrangements in this 14-kb gene, a method was developed for the P

Detection of large gene rearrangements i
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease
✍ Robert Dobrovolny; Irina Nazarenko; Jungmin Kim; Dana Doheny; Robert J. Desnick 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 1 views

For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR-amplified exonic regions and their intronic boundaries can miss large deletions or duplications and mutations that lead to PCR failures in autosomal dominant disorde

A sensitive mutation screening strategy
A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene
✍ Lianne C. Blanch; Cathy Meaney; C. Phillip Morris 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 660 KB

Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev