𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population

✍ Scribed by Anne Claire Lepretre; Catherine Patrat; Pierre Jouannet; Thierry Bienvenu

Book ID
108785088
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
201 KB
Volume
27
Category
Article
ISSN
0105-6263

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutation analysis of the GALT gene in Cz
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)
✍ Libor KozΓ‘k; Hana FrancovΓ‘; Lenka FajkusovΓ‘; Anna PijΓ‘ckovΓ‘; JindriΕ‘ka Macku; Sy πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 48 KB πŸ‘ 2 views

A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. A total of 16 sequence variations in eleven mutated alleles was found. The two most common molecular defects were the mutations Q188R (46.0%) and K285N (25.7%). Six novel muta

Optimization of a simple and rapid singl
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants
✍ Yolanda Espinosa-Parrilla; Marta Morell; Montserrat Borrell; Joan Carles Souto; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 448 KB πŸ‘ 2 views

Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. The structure and high allelic heterogeneity of the PS gene (PROS1), together with the presence of a 97% homologous pseudogene, complicates PROS1 analysis. We have optimized a simple, fast, and non-isotopic Single-Stra