𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy

✍ Scribed by Robert A. Hegele; Henian Cao; Dora M. Liu; Gary A. Costain; Valentine Charlton-Menys; N. Wilson Rodger; Paul N. Durrington

Book ID
117854854
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
229 KB
Volume
79
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Screening of patients with hereditary sp
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
✍ C. Proukakis; M. Auer-Grumbach; K. Wagner; P.A. Wilkinson; E. Reid; M.A. Patton; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 31 KB πŸ‘ 1 views

Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr

Mutational screening of the RB1 gene in
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations
✍ Velamakanni Saroj Kiran; Chitra Kannabiran; Kalyana Chakravarthi; Geeta K. Vemug πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 37 KB πŸ‘ 1 views

Retinoblastoma is the most common primary intraocular malignancy in children, caused by inactivation of the RB1 gene on chromosome 13. We carried out a mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma in order to determine the range of mutations givi