✦ LIBER ✦

Radioimmunoassay determinations of decreased amounts of α-L-fucosidase protein in fucosidosis

✍ Scribed by Andrews-Smith, Grai L.; Alhadeff, Jack A.

Book ID: 123582959
Publisher: Elsevier Science
Year: 1982
Tongue: English
Weight: 517 KB
Volume: 715
Category: Article
ISSN: 0304-4165
DOI: 10.1016/0304-4165(82)90053-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pedigree analysis of α-l-fucosidase gene

Pedigree analysis of α-l-fucosidase gene mutations in a fucosidosis family

✍ Yang, Meihang; Allen, Howard; DiCioccio, Richard A. 📂 Article 📅 1993 🏛 Elsevier Science 🌐 English ⚖ 638 KB

Abnormal expression ofα-L-fucosidase in

Abnormal expression ofα-L-fucosidase in lymphoid cell lines of fucosidosis patients

✍ Richard A. DiCioccio; John K. Darby; Patrick J. Willems 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 667 KB

A missense mutation (G197→A) in theα-l-f

A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase

✍ Meiheng Yang; Howard Allen; Hisao Fukushima; Richard A. DiCioccio 📂 Article 📅 1994 🏛 Springer US 🌐 English ⚖ 329 KB

Purification and serological studies of

Purification and serological studies of human α-L-fucosidase in the normal and fucosidosis states

✍ Robin Thorpe; Donald Robinson 📂 Article 📅 1978 🏛 Elsevier Science 🌐 English ⚖ 841 KB

A mutation generating a stop codon in th

A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patient

✍ Meiheng Yang; Howard Allen; Richard A. DiCioccio 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 414 KB

A 66-Basepair insertion in Exon 6 of the

A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;

✍ Hee Chan Seo; Meiheng Yang; Alex H. Kim; John S. O'Brien; Richard A. Dicioccio; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f