✦ LIBER ✦

Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings

✍ Scribed by Alessandra Ferlini; Fabrizio Salvi; Antonino Uncini; Jasmin El-Chami; Pia Winter; Klaus Altland; Monica Repetto; Massimo Littardi; Andrea Campoleoni; Paolo Vezzoni; Maria Cristina Patrosso

Book ID: 115091923
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 752 KB
Volume: 49
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1996.tb04317.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Homozygosity for a FBN1 missense mutatio

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

✍ de Vries, Bert B A; Pals, Gerard; Odink, Roelof; Hamel, Ben C J 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 169 KB

Clinical and biochemical abnormalities i

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

✍ A. B. P. Van Kuilenburg; P. Vreken; D. Riva; G. Botteon; N. G. G. M. Abeling; H. 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 32 KB

Clinical and Biochemical Manifestations

Clinical and Biochemical Manifestations and Molecular Characterization of the Mutation HPRT Jerusalem

✍ E. Zoref-Shani; Y. Bromberg; J. Hirsch; S. Feinstein; Y. Frishberg; O. Sperling 📂 Article 📅 2005 🏛 John Wiley and Sons ⚖ 8 KB 👁 1 views

## Abstract For Abstract see ChemInform Abstract in Full Text.

Clinical and Biochemical Manifestations

Clinical and Biochemical Manifestations and Molecular Characterization of the Mutation HPRT Jerusalem

✍ Zoref‐Shani, E.; Bromberg, Y.; Hirsch, J.; Feinstein, S.; Frishberg, Y.; Sperlin 📂 Article 📅 2004 🏛 Taylor and Francis Group 🌐 English ⚖ 114 KB

Clinical and molecular findings in four

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation

✍ L. Vilarinho; C. Barbot; R. Carrozzo; E. Calado; A. Tessa; C. Dionisi-Vici; A. G 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 45 KB

Clinical, biochemical and molecular find

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years

✍ Hendrickx, J.; Bosshard, N. U.; Willems, P.; Gitzelmann, R. 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 155 KB