✦ LIBER ✦

Three novel somatic mutations in the NF2 tumor suppressor gene [g816T>A; g1159A>G; gIVS11-1G>T]

✍ Scribed by César Paz-y-Miño; Paola E. Leone

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 13 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200005)15:5<487::aid-humu27>3.0.co;2-j

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of four novel mutations i

Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)

✍ Kamiab Tavassoli; Antonin Eigel; Bernd Dworniczak; Elena Valtseva; Jürgen Horst 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 1 views

A novel splice site mutation (3157+1G>T)

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

✍ M. Sironi; S. Corti; F. Locatelli; R. Cagliani; G.P. Comi 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB

Three novel mutations (P215L, T289P, and

Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

✍ María Martinez-Gimeno; María José Trujillo; Isabel Lorda; Ascensión Gimenez; Mar 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

Three novel mutations (P215L, T289P, and 3811

Erratum: A novel splice site mutation (3

Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

✍ M. Sironi; S. Corti; F. Locatelli; R. Cagliani; G.P. Comi 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB

A novel splice site mutation (3157+1G>T)

Identification of three novel 6-pyruvoyl

Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

✍ Tze-Tze Liu; Yu-Hsin Chang; Szu-Hui Chiang; Yan-Ling Yang; Wei-Min Yu; Kwang-Jen 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel

A novel mutation at the invariant accept

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

✍ David H. Brown; Barbara L. Triggs-Raine; Matthew J. McGinniss; Michael M. Kaback 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 251 KB 👁 2 views