✦ LIBER ✦

Identification of 217 unreported mutations in theF8gene in a group of 1,410 unselected Italian patients with hemophilia A

✍ Scribed by R. Santacroce; M. Acquila; D. Belvini; G. Castaldo; I. Garagiola; S. H. Giacomelli; A. M. Lombardi; B. Minuti; F. Riccardi; R. Salviato; L. Tagliabue; E. Grandone; M. Margaglione; The AICE-Genetics Study Group

Book ID: 106252285
Publisher: Nature Publishing Group
Year: 2008
Tongue: English
Weight: 207 KB
Volume: 53
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-007-0238-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of 123 previously unrepor

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with Haemophilia A

✍ S. RAVANBOD; M. RASSOULZADEGAN; G. RASTEGAR-LARI; M. JAZEBI; S. ENAYAT; F. ALA 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB

Identification of previously unreported

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

✍ Raffaella Brugnoni; Lorenzo Maggi; Eleonora Canioni; Isabella Moroni; Chiara Pan 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 390 KB

Neurofibromatosis eurofibromatosis type

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

✍ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 1 views

In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,

Erratum: Neurofibromatosis type 1 (NF1):

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

✍ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

Identification of mutations in two famil

Identification of mutations in two families with sporadic hemophilia A

✍ Christine Paynton; Gobinda Sarkar; Steve S. Sommer 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 517 KB

Direct sequencing of segments of the factor VIII gene in 30 hemophiliacs with sporadic disease (32+ kb of sequence in total) revealed two missense transitions: glutamate 1704 to lysine (E17~ in a patient with severe hemophilia A and proline 2300 to serine (p2300\_\_> S) in a patient with mild hemoph

Identification of new ANG gene mutations

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

✍ Cinzia Gellera; Claudia Colombrita; Nicola Ticozzi; Barbara Castellotti; Cinzia 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 247 KB