Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency (Q24308088)

central nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

biotinidase deficiency

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R J Pomponio

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T R Reynolds

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H Cole

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G A Buck

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B Wolf

https://scigraph.springernature.com/pub.10.1038/ng0995-96

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language of work or name

English

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publication date

September 1995

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published in

Nature Genetics

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volume

11

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page(s)

96-8

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issue

1

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exact match

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cites work

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1038/NG0995-96

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

20 April 2017

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Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity

21 January 2018

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Phenotypic variation in biotinidase deficiency

21 January 2018

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Biotinidase deficiency: initial clinical features and rapid diagnosis.

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Worldwide survey of neonatal screening for biotinidase deficiency

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An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

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A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

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A routine method for the establishment of permanent growing lymphoblastoid cell lines

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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