✦ LIBER ✦

Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M

✍ Scribed by Margriet E. M. Kraakman; Michel de Weers; Teresa Español; Ruud K. B. Schuurman; Rudolf W. Hendriks

Book ID: 115091697
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 297 KB
Volume: 48
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1995.tb04053.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a Genetic Mutation in

Identification of a Genetic Mutation in a Family with Fructose-1,6-bisphosphatase Deficiency

✍ Y. Kikawa; M. Inuzuka; B.Y. Jin; S. Kaji; Y. Yamamoto; Y. Shigematsu; A. Nakai; 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 344 KB

Identification of a novel DSRAD gene mut

Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria

✍ M. Li; L.-J. Yang; X.-H. Zhu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB

Identification of a novel NOG gene mutat

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

✍ M. Mangino; E. Flex; M.C. Digilio; A. Giannotti; B. Dallapiccola 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

## Symphalangism (SYM or SYM1 ) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which

Identification of a mutation in thePKD2

Identification of a mutation in thePKD2 gene in a family with age-related macular degeneration

✍ Narendran, Niro ;Guymer, Robyn H. ;Cain, Melinda ;Baird, Paul N. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB 👁 2 views

Genetic mosaicism of a frameshift mutati

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease

✍ Müller, Charlotte M.; Haase, Michael G.; Kemnitz, Ivonne; Fitze, Guido 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 324 KB

Clinical and genetic investigation of a

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

✍ Ouechtati, Farah; Merdassi, Ahlem; Bouyacoub, Yosra; Largueche, Leila; Derouiche 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 620 KB