A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family

Clinical Genetics

Volumn 74, Issue 3, 2008, Pages 274-278

  Xin, Baozhong ^a   Puffenberger, E ^b   Nye, L ^a   Wiznitzer, M ^c   Wang, H ^a,b,d  

^a DDC Clinic for Special Needs Children   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c CASE WESTERN RESERVE UNIVERSITY   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Charcot; GDAP1 gene; Genome wide SNP mapping; Homozygous mutation; Marie; Old Order Amish; Tooth disease

Indexed keywords

CYTOSINE; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GENE PRODUCT; GENOMIC DNA; TYROSINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TREMOR; UNITED STATES;

BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FAMILY; GENES, RECESSIVE; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; OHIO; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 49549086207     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01018.x     Document Type: Article

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