ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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im März 2011 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 16 March 2011

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wetenschappelijk artikel

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наукова стаття, опублікована в березні 2011

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

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P1476

ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability

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P2093

Akihiro Iguchi

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Gabriella Arredondo-Santisteban

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Ichiro Kobayashi

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Ines Santisteban

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Makoto Yoshida

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Masafumi Yamada

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Michael S Hershfield

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Noriko Nakagawa

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Tadashi Ariga

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Yuka Okura

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P2860

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

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675-676

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scholarly article

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10.1111/J.1365-2141.2011.08640.X

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English

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153

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Osamu Ohara

Kohsuke Imai

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2011-03-16T00:00:00Z

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21410451

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