Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]

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Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 1999-11, Vol.14 (5), p.449-449
Hauptverfasser:	Bissar-Tadmouri, Nisrine, Gulsen-Parman, Yesim, Latour, Philippe, Deymeer, Feza, Serdaroglu, Piraye, Vandenberghe, Antoon, Battaloglu, Esra
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Amino Acid Substitution Base Sequence Charcot-Marie-Tooth Disease - genetics Chromosome Deletion Chromosomes, Human, Pair 1 CMT1B Female Humans Male Middle Aged Molecular Sequence Data MPZ Mutagenesis, Insertional Mutation, Missense Myelin P0 Protein - genetics myelin protein zero Point Mutation Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Turkey Two Charcot-Marie-Tooth type 1B
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