✦ LIBER ✦

Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene 1

✍ Scribed by Garg, Abhimanyu; Vinaitheerthan, Maheswari; Weatherall, Paul T.; Bowcock, Anne M.

Book ID: 124149886
Publisher: Endocrine Society
Year: 2001
Tongue: English
Weight: 649 KB
Volume: 86
Category: Article
ISSN: 0021-972X
DOI: 10.1210/jcem.86.1.7121

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational and Haplotype Analyses of Fam

Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C

✍ Rebecca A. Speckman; Abhimanyu Garg; Fenghe Du; Lynda Bennett; Rose Veile; Elif 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 636 KB

Expression of Lamin A Mutated in the Car

Expression of Lamin A Mutated in the Carboxyl-Terminal Tail Generates an Aberrant Nuclear Phenotype Similar to That Observed in Cells from Patients with Dunnigan-Type Partial Lipodystrophy and Emery-Dreifuss Muscular Dystrophy

✍ Catherine Favreau; Emmanuelle Dubosclard; Cecilia ;Ostlund; Corinne Vigouroux; J 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 363 KB

Familial Alzheimer's disease in kindreds

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

✍ Rogaev, E. I.; Sherrington, R.; Rogaeva, E. A.; Levesque, G.; Ikeda, M.; Liang, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 908 KB

Failure of lamin A/C to functionally ass

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

✍ Cristina Capanni; Vittoria Cenni; Elisabetta Mattioli; Patrizia Sabatelli; Andre 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 700 KB

Sequence analysis of the CDKN1B gene in

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

✍ Diego Ojeda; Besma Lakhal; Dora Janneth Fonseca; Rim Braham; Hanène Landolsi; He 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 219 KB

Corrigendum to “FH-Freiburg: a novel mis

Corrigendum to “FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia” [Atherosclerosis 151 (2000) 525–534]

✍ Markus S. Nauck; Hubert Scharnagl; Henrik Nissen; Christine Schürmann; Dietrich 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 39 KB