Jagged1 ( JAG1 ) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

Jagged1 (JAG1) mutations in Alagille syn

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

✍ DM Warthen; EC Moore; BM Kamath; JJD Morrissette; P Sanchez; DA Piccoli; ID Kran 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB 👁 1 views

Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we i

Jagged1 (JAG1) mutation detection in an

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

✍ Mandy L. Heritage; John C. MacMillan; Raymond P. Colliton; Anna Genin; Nancy B. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 306 KB 👁 2 views

Jagged1 mutations in Alagille syndrome

✍ Nancy B. Spinner; Raymond P. Colliton; Cécile Crosnier; Ian D. Krantz; Michelle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

Increasing the mutation rate for jagged1

Increasing the mutation rate for jagged1 mutations in patients with Alagille syndrome

✍ David L. Suskind; Karen F. Murray 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 1 views

Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we i

Mutation analysis of Jagged1 (JAG1) in A

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

✍ Raymond P. Colliton; Lynn Bason; Feng-Min Lu; David A. Piccoli; Ian D. Krantz; N 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein trun

Alagille syndrome notches up mutations i

Alagille syndrome notches up mutations in Jagged 1

📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 512 KB