✦ LIBER ✦

Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

✍ Scribed by Nagle, Deborah L.; Karim, Mohammad A.; Woolf, Elizabeth A.; Holmgren, Lisa; Bork, Peer; Misumi, Donald J.; McGrail, Sonja H.; Dussault, Barry J.; Perou, Charles M.; Boissy, Raymond E.

Book ID: 109918622
Publisher: Nature Publishing Group
Year: 1996
Tongue: English
Weight: 805 KB
Volume: 14
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1196-307

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of the homologous beige a

Identification of the homologous beige and Chediak–Higashi syndrome genes

✍ Barbosa, Maria D. F. S. ;Nguyen, Quan A. ;Tchernev, Velizar T. ;Ashley, Jennifer 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 291 KB

Cloning of bovineLYSTgene and identifica

Cloning of bovineLYSTgene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle

✍ Tetsuo Kunieda; Michiko Nakagiri; Marika Takami; Hanako Ide; Hiroyuki Ogawa 📂 Article 📅 1999 🏛 Springer-Verlag 🌐 English ⚖ 258 KB

A frameshift mutation in the LYST gene i

A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chédiak–Higashi syndrome in American mink

✍ R. Anistoroaei; A. K. Krogh; K. Christensen 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 529 KB

Identification of proteins in the ceroid

Identification of proteins in the ceroid-like autofluorescent aggregates from liver lysosomes of Beige, a mouse model for human Chediak–Higashi syndrome

✍ Huiwen Zhang; Don J. Mahuran; John W. Callahan 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 308 KB

Localization of the locus responsible fo

Localization of the locus responsible for Chediak–Higashi syndrome in cattle to bovine chromosome 28

✍ T Kunieda; H Ide; M Nakagiri; K Yoneda; B Konfortov; H Ogawa 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB

Chediak–Higashi syndrome in Japanese black cattle is a hereditary disease with prolonged bleeding time and partial albinism. In the present study, we mapped the locus responsible for the disease (__CHS__) by linkage analysis using microsatellite genotypes of paternal half‐sib pedigrees obtained from

Identification and analysis of the compl

Identification and analysis of the complete cDNA sequence for the human FAC1 gene

✍ Ping Zhu; Robert Bowser 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 326 KB