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Article

Detection of point mutations and a gross deletion in six Hunter Syndrome patients

1 Jul 1992

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1639384
DOI: 10.1016/0888-7543(92)90123-a

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Related research

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Detection of point mutations and a gross deletion in six Hunter Syndrome patientsPMID 1639384Read ↗

Mutation analysis in 20 patients with Hunter disease.Semantic proximity Read ↗

Hunter syndrome: gene deletions and rearrangements.Semantic proximity Read ↗

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Identification of a Mutation Causing Mucopolysaccharidosis Type IIIA in New Zealand Huntaway DogsSemantic proximity Read ↗

Barth syndrome associated with triple mutation.Semantic proximity Read ↗

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.Semantic proximity Read ↗

Hunting for Mutations in Indian Patients with Hunter Syndrome.Semantic proximity Read ↗

[Mutation analysis in Hunter patients].Semantic proximity Read ↗

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuriaSemantic proximity Read ↗

Point mutation in a Becker muscular dystrophy patient.Semantic proximity Read ↗

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.Semantic proximity Read ↗

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.Semantic proximity Read ↗

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