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November 1, 1996Human Molecular GeneticsOpen Access

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

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Authors

RWRichard WenstrupEpic Sciences (United States)

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Richard Wenstrup (1996) studied this question.

synapsesocial.com/papers/6a98743ec23907cedead9048https://doi.org/10.1093/hmg/5.11.1733
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Isolation of a new procollagen V chain from chick embryo tendon.1985 · 23 citations
  2. 2A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.1994 · 61 citations
  3. 3COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II1995 · 35 citations
  4. 4Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)1995 · 44 citations
  5. 5Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).1967 · 177 citations