✦ LIBER ✦

Novel mutations of theFANCGgene causing alternative splicing in Japanese Fanconi anemia

✍ Scribed by T. Yamada; A. Tachibana; T. Shimizu; H. Mugishima; M. Okubo; M. S. Sasaki

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 271 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050203

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Four novel mutations of the Fanconi anem

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients

✍ Asako Nakamura; Shinya Matsuura; Hiroshi Tauchi; Ryoji Hanada; Hirofumi Ohashi; 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 127 KB

Novel inactivating mutations of FANCC in

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia

✍ Jane Yates; Winifred Keeble; Gerard Pals; Najim Ameziane; Rosalina van Spaendonk 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB

We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455\_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analys

The FANCA gene in Japanese Fanconi anemi

The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability

✍ Akira Tachibana; Takesi Kato; Yosuke Ejima; Toshiko Yamada; Takashi Shimizu; Lic 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 360 KB 👁 2 views

Fanconi anemia (FA), an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malignancies, is a genetically and clinically heterogeneous disease. At least eight complementation groups (FA-A to FA-H) have been identif

Identification and characterization of n

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population

✍ Hiroshi Yagasaki; Satoshi Hamanoue; Tsukasa Oda; Tatsutoshi Nakahata; Shigetaka 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB 👁 2 views

Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis, with at least 11 complementation groups. FANCA, a gene for group A, accounts for the majority of FA patients. Previous studies of FANCA mutations revealed high allelic heterogeneity, frequent occurrence of large deletions,

Two common founder mutations of the fanc

Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population

✍ Hiroshi Yagasaki; Tsukasa Oda; Daiki Adachi; Toshiaki Nakajima; Tatsutoshi Nakah 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis with eight complementation groups (FA-A, B, C, D1, D2, E, F and G). To date, seven of the FA genes have been identified. Although extensive analyses in Western countries revealed that the subgroup prevalence and mutational s

Novel frameshift mutation (1806insA) in

Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC

✍ Jerome R. Lo Ten Foe; Martin A. Rooimans; Hans Joenje; Fré Arwert 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

## Bobrw Fanconi anemia (FA) is a rare autosomal reces-