𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Jerome R. Lo Ten Foe; Martin A. Rooimans; Hans Joenje; Fré Arwert


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
180 KB
Volume
7
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis


Bobrw

Fanconi anemia (FA) is a rare autosomal reces-


📜 SIMILAR VOLUMES


A novel frameshift mutation (141delT) in
✍ Nils Krone; Andreas Braun; Adelbert Anton Roscher; Hans Peter Schwarz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 349 KB 👁 1 views

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p

A novel mutation of the protein C gene w
✍ Takahashi, Toru; Shinohara, Kenji; Nawata, Ryohei; Wakiyama, Machiko; Hamasaki, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 3 views

TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ± 4.6 Control 2 48.5 ± 14.1 Before chemotherapy 24.4 ± 6.2 b After chemotherapy 50.5 ± 6.5 Values are means ± SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa

A novel splice-acceptor site mutation (I
✍ Anna Thongnoppakhun; Nanyawan Rungroj; Prapon Wilairat; Kriengsak Vareesangthip; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB 👁 3 views

Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1