✦ LIBER ✦

A Rare Mutation in the Primer Binding Region of the Amelogenin Gene Can Interfere with Gender Identification

✍ Scribed by Shadrach, Bonnie; Commane, Mairead; Hren, Carol; Warshawsky, Ilka

Book ID: 122969353
Publisher: American Society for Investigative Pathology
Year: 2004
Tongue: English
Weight: 370 KB
Volume: 6
Category: Article
ISSN: 1525-1578
DOI: 10.1016/S1525-1578(10)60538-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A rare mutation in the primer binding re

A rare mutation in the primer binding region of the Amelogenin X homologue gene

✍ Agnieszka Maciejewska; Ryszard Pawłowski 📂 Article 📅 2009 🏛 Elsevier 🌐 English ⚖ 194 KB

Identification of a nonsense mutation in

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)

✍ Michael J. Aldred; Peter J. M. Crawford; Enriqueta Roberts; Nicholas S. T. Thoma 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 625 KB

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this de

Identification of a mutation in the prom

Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy

✍ Katharine M. D. Bushby; Nicola J. Cleghorn; Ann Curtis; Irene D. Haggerty; Louis 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 961 KB

We have identified 7 patients with Becker muscular dystrophy (BMD) in whom analysis of dystrophin by immunoblotting shows a full-sized molecule produced at reduced abundance compared with controls. They have no detectable deletion in their dystrophin cDNA. One patient presented atypically with unusu

Genetic analysis of a Japanese cerebrote

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

✍ Wengen Chen; Shunichiro Kubota; Yukiko Nishimura; Shuichi Nozaki; Shizuya Yamash 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 681 KB

A point mutation at ATP-binding region o

A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

✍ Tadashi Matsumoto; Tatsuro Kondoh; Hideaki Masuzaki; Naoki Harada; Tetsuo Matsus 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 432 KB

Mutation of a Nuclear Respiratory Factor

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

✍ S. Marie; V. Race; M.-C. Nassogne; M.-F. Vincent; G. Van den Berghe 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 1007 KB