✦ LIBER ✦

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

✍ Scribed by Yoko Kawai; Akihiko Moriyama; Kiyofumi Asai; Carrie M. Coleman-Campbell; Satoshi Sumi; Hideko Morishita; Mariko Suchi

Book ID: 106134096
Publisher: Springer
Year: 2005
Tongue: English
Weight: 427 KB
Volume: 116
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-004-1232-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular characterization of histidinem

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

✍ Yoko Kawai; Akihiko Moriyama; Kiyofumi Asai; Carrie M. Coleman-Campbell; Satoshi 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 154 KB

Identification of the Mutation in Murine

Identification of the Mutation in Murine Histidinemia (his) and Genetic Mapping of the Murine Histidase Locus (Hal) on Chromosome 10

✍ Robin G. Taylor; Donald Grieco; Geoffrey A. Clarke; Roderick R. McInnes; Benjami 📂 Article 📅 1993 🏛 Elsevier Science 🌐 English ⚖ 669 KB

Identification of two novel missense mut

Identification of two novel missense mutations in the human OB gene

✍ Echwald, S M; Rasmussen, S B; Sørensen, T I A; Andersen, T; Tybjærg-Hansen, A; C 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 151 KB

Molecular Cloning and Structural Charact

Molecular Cloning and Structural Characterization of the Human Histidase Gene (HAL)

✍ Mariko Suchi; Hirofumi Sano; Haruo Mizuno; Yoshiro Wada 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 563 KB

In vitro functional characterization of

In vitro functional characterization of missense mutations in the LDLR gene

✍ S. Silva; A.C. Alves; D. Patel; R. Malhó; A.K. Soutar; M. Bourbon 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 437 KB

Molecular basis for Rhnull syndrome: Ide

Molecular basis for Rhnull syndrome: Identification of three new missense mutations in the Rh50 glycoprotein gene

✍ Huang, Cheng-Han; Cheng, Guangjie; Liu, Zhi; Chen, Ying; Reid, Marion E.; Halver 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 758 KB

Rh null is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. We report studies of two Japanese Rh null cases and describe three new missense mutations of RHAG, the locus that encodes Rh50 glycoprotein and