✦ LIBER ✦

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

✍ Scribed by Kamel Ben Othmane; Lefkos T. Middleton; Lorraine J. Loprest; Kenneth M. Wilkinson; Felicia Lennon; Marvin P. Rozear; Jeffrey U. Stajich; Perry C. Gaskell; Allen D. Roses; Margaret A. Pericak-Vance; Jeffery M. Vance

Book ID: 115611701
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 353 KB
Volume: 17
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1993.1334

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Localization of Charcot-Marie-Tooth dise

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

✍ Vance, Jeffery M.; Barker, David; Yamaoka, Larry H.; Stajich, Jeffrey M.; Lopres 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 645 KB

A new locus for autosomal dominant Charc

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

✍ Ismailov, Shoukhrat M; Fedotov, Valeriy P; Dadali, Elena L; Polyakov, Alexander 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 113 KB

P3.23 Characterization of a new mutation

P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

✍ M. Guijarro; P. Blanco-Arias; J. Pardo; C. Concheiro-Álvarez; B. San Millán; J. 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 59 KB

Autosomal dominant distal spinal muscula

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

✍ Nyamkhishig Sambuughin; Kumaraswamy Sivakumar; Badamjav Selenge; Hee Suk Lee; Da 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 165 KB

A Locus for an Axonal Form of Autosomal

A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3

✍ Ahmed Bouhouche; Ali Benomar; Nazha Birouk; Angélique Mularoni; Farid Meggouh; J 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 423 KB

Prenatal detection of the 17p11.2 duplic

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

✍ Bernard, Rafaëlle; Boyer, Amandine; Nègre, Philippe; Malzac, Perrine; Latour, Ph 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 276 KB