Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

Neurogenetics

Volumn 3, Issue 2, 2001, Pages 107-109

  Bolino, Alessandra ^a   Lonie, Lorne J ^a   Zimmer, Michael ^a   Boerkoel, Cornelius F ^b   Takashima, Hiroshi ^b   Monaco, Anthony P ^a   Lupski, James R ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; Denaturing high performance liquid chromatography; Mutation; Protein phosphatase

Indexed keywords

ISOPROTEIN; MTMR2 PROTEIN, HUMAN; PROTEIN TYROSINE PHOSPHATASE;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; CHROMOSOME 11; CHROMOSOME MAP; CLASSIFICATION; EXON; GENETIC VARIABILITY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; HUMAN; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION;

AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; EXONS; HOMOZYGOTE; HUMANS; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; PROTEIN-TYROSINE-PHOSPHATASE; VARIATION (GENETICS);

EID: 0035290654     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480000101     Document Type: Article

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