Variant: rs132630278 

    present in Gene: RAB9B;PLP1
    present in Chromosome: X
    Position on Chromosome: 103788460
    Alleles of this Variant: C/T

rs132630278 in RAB9B;PLP1 gene and Pelizaeus-Merzbacher Disease PMID 9633722 1998 Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

PMID 9008538 1997 Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

PMID 9482656 1998 Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.

PMID 8037216 1994 Comparison of statistics for candidate-gene association studies using cases and parents.

PMID 9747038 1998 Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.

PMID 7573159 1995 Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

PMID 7683951 1993 A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.

PMID 2480601 1989 Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

PMID 2773936 1989 Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

PMID 9894878 1999 Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.

PMID 7531827 1995 A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

PMID 10417279 1999 Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

PMID 7541731 1995 Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

PMID 1707231 1991 A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

PMID 7539213 1995 In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 10425042 1999 A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

PMID 1384324 1992 Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

PMID 9934976 1999 Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).