✦ LIBER ✦

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

✍ Scribed by Marie Wattenhofer; Nilüfer Sahin-Calapoglu; Ditte Andreasen; Ersan Kalay; Refik Caylan; Bastien Braillard; Nicole Fowler-Jaeger; Alexandre Reymond; Bernard C. Rossier; Ahmet Karaguzel; Stylianos E. Antonarakis

Publisher: Springer
Year: 2005
Tongue: English
Weight: 388 KB
Volume: 117
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-005-1332-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation, R70W, in the

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

✍ A.M. Brown; S.M. Willi; G. Argyropoulos; W.T. Garvey 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

To follow nomenclature guide. Arg70Trp ## Nucleotide change-Systematic name: Sequential no. in genomic or cDNAsequence. e.g., c1227c->T c.208C>T ## Amino acid change-Trivial name: Codon number and change. e.g., R108W

A novel missense mutation of the ATP2A2

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier’s disease

✍ Sen Yang; Liang-Dan Sun; Hong-Sheng Liu; Ji-Yun Wang; Ping-Ping He; Ming Li; Min 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 258 KB

A novel missense mutation (G209R) in exo

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af

Identification of a novel missense mutat

Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b

✍ Ching-Wan Lam; Sui-Fan Tong; Yuen-Yu Lam; Bik-Yan Chan; Chun-Hung Ma; Pak-Leong 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 865 KB

A novel mutation in the gene encoding TI

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

✍ Luis A. Aguirre; Ignacio del Castillo; Alfons Macaya; Carme Medá; Manuela Villam 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 2 views

A novel missense mutation (R712L) adjace

A novel missense mutation (R712L) adjacent to the “active thiol” region of the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family

✍ Sadayappan Sakthivel; Pulavelil Kurian Joseph; Jagan Mohan Tharakan; Hans-Peter 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 3 views

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac ß-myosin heavy chain gene causing