✦ LIBER ✦

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

✍ Scribed by Oztürk Ozdemir; Ilhan Sezgin; Hande Kucuk Kurtulgan; Ferhan Candan; Binnur Koksal; Haldun Sumer; Dilara Icagasioglu; Atilla Uslu; Fazilet Yildiz; Sulhattin Arslan; Selma Cetinkaya; Senol Citli; Zekeriya Oztemur; Mansur Kayatas

Publisher: Springer
Year: 2010
Tongue: English
Weight: 179 KB
Volume: 38
Category: Article
ISSN: 0301-4851
DOI: 10.1007/s11033-010-9991-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Screening for mutations in exon 4 of the

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

✍ Jürgen Geisel; Guido Holzem; Kurt Oette 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 817 KB

High prevalence of a missense mutation o

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population

✍ P. J. Saker; A. T. Hattersley; B. Barrow; M. S. Hammersley; J.-A. McLellan; Y.-M 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 168 KB

High prevalence of a point mutation in t

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

✍ Xue-Fan Gu; Felix Rooij; J. S. Lee; Kor Velde; Jean Charles Deybach; Yves Nordma 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 445 KB

Analysis of the CFTR gene in the Spanish

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

✍ Miguel Chillón; Teresa Casals; Javier Giménez; Virginia Nunes; Xavier Estivill 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 599 KB

Prevalence of the G1691A mutation in the

Prevalence of the G1691A mutation in the factor V gene (factor V Leiden) and the G20210A prothrombin gene mutation in the Thai population

✍ Pantep Angchaisuksiri; Sarinee Pingsuthiwong; Katcharin Aryuchai; Manisa Busabar 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

A common mutation in the CBS gene explai

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

✍ Mahmoud F. El-Said; Ramin Badii; M.S. Bessisso; Noora Shahbek; Mariam G. El-Ali; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

We report the results of a study carried out to delineate genetic and epidemiological aspects of homocystinuria in the Qatari population. Sixty-four patients with homocystinuria (37 males, 27 females, age 1 to 29 years) from 31 nuclear families were ascertained over a period of more than four years.