✦ LIBER ✦

Mutation c. 1142 del G in thePRPF31Gene in a Family with Autosomal Dominant Retinitis Pigmentosa (RP11) and Its Implications

✍ Scribed by Kurenai Taira; Mitsuru Nakazawa; Motoya Sato

Publisher: Springer
Year: 2007
Tongue: English
Weight: 176 KB
Volume: 51
Category: Article
ISSN: 0021-5155
DOI: 10.1007/s10384-006-0394-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rhodopsin mutation G109R in a family wit

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

✍ Rene Goliath; Soraya Bardien; Alison September; Rebecca Martin; Rajkumar Ramesar 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB

W179R: A novel missense mutation in the

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

✍ Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Ham 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Novel rhodopsin mutation in an autosomal

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

✍ C. Ayuso; María José Trujillo; Mercedes Robledo; Carmen Ramos; Javier Benitez; F 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 58 KB

New mutation in the 3′-acceptor splice s

New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

✍ Carlos Reig; Ana-Isabel Alvarez; Isabel Tejada; Manuel Molina; Esteban Aróstegui 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 2 views

Identification of a novel R552Q mutation

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

✍ Diana Valverde; Montserrat Baiget; Ramón Seminago; Elisabeth Del Rio; Blanca Gar 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o

Identification and molecular modelling o

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

✍ Mirjam W. J. Luijendijk; Erwin van Wijk; Anne M. L. C. Bischoff; Elmar Krieger; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 579 KB