Myelin Protein Zero (MPZ) gene mutations in nonduplication type 1 charcot-marie-tooth disease

Human Mutation

Volumn 7, Issue 1, 1996, Pages 36-45

  Roa, Benjamin B ^a   Warner, Laura E ^a   Garcia, Carlos A ^b   Russo, Donna ^c   Lovelace, Robert ^c   Chance, Phillip F ^d   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c New York Presbyterian Hospital Columbia University Medical Center   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Charcot marie tooth disease; CMT1B; MPZ gene; Myelin protein zero; Po; Point mutation

Indexed keywords

MYELIN PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 17P; CHROMOSOME 1Q; CONTROLLED STUDY; GENE DUPLICATION; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; COHORT STUDIES; EXONS; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN P0 PROTEIN; NUCLEIC ACID HETERODUPLEXES; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RESTRICTION MAPPING; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030048089     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:1<36::aid-humu5>3.3.co;2-8     Document Type: Article

References (10)

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