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. 1994 Mar;6(3):314-7.
doi: 10.1038/ng0394-314.

The gene for achondroplasia maps to the telomeric region of chromosome 4p

M Velinov  1 , S A Slaugenhaupt, I Stoilov, C I Scott Jr, J F Gusella, P Tsipouras
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The gene for achondroplasia maps to the telomeric region of chromosome 4p

M Velinov et al. Nat Genet. 1994 Mar.

Abstract

Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the telomere of the short arm of chromosome 4 (4p16.3), by family linkage studies using 14 pedigrees. A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization will facilitate the positional cloning of the disease gene.

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  • Chromosome 4p16 and osteochondroplasias.
    Urioste M, Martinez-Frias ML, Bermejo E, Villa A, Jimenez N, Romero D, Nieto C. Urioste M, et al. Nat Genet. 1994 Apr;6(4):334. doi: 10.1038/ng0494-334. Nat Genet. 1994. PMID: 8054971 No abstract available.

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