Identification of two new missense mutations (K58N a(ND) R121Q) in the norrie disease (ND) gene in two Spanish families

J. J. Fuentes, V. Volpinl, F. Fernandez-toral, E. Coto, Xavier P. Estivill

Research output: Contribution to journalArticle

32 Citations (Scopus)
Original languageEnglish
Pages (from-to)1953-1955
Number of pages3
JournalHuman Molecular Genetics
Volume2
Issue number11
DOIs
Publication statusPublished - Nov 1993
Externally publishedYes

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Molecular Sequence Data
DNA Primers
Chromosome Mapping
X Chromosome
Missense Mutation
Blindness
Pedigree
Point Mutation
Spain
Amino Acid Sequence
Exons
Polymerase Chain Reaction
Genes
Norrie disease

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Identification of two new missense mutations (K58N a(ND) R121Q) in the norrie disease (ND) gene in two Spanish families. / Fuentes, J. J.; Volpinl, V.; Fernandez-toral, F.; Coto, E.; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 2, No. 11, 11.1993, p. 1953-1955.

Research output: Contribution to journalArticle

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