A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.

Isao Kuribayashi,Hideaki Kuge,Romero Jovel Santa,Aldahoodi Ziyad Mutlaq,Naohito Yamasaki,Takashi Furuno,Akio Takahashi,Shoichi Chida,Toshiro Nakamura,Fumio Endo,Yoshinori Doi,Saburo Onishi,Yutaka Shizuta

A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.

2003

Isao Kuribayashi
Hideaki Kuge
Romero Jovel Santa
Aldahoodi Ziyad Mutlaq
Naohito Yamasaki
Takashi Furuno
Akio Takahashi
Shoichi Chida
Toshiro Nakamura
Fumio Endo
Yoshinori Doi
Saburo Onishi
Yutaka Shizuta

Objectives: To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were

Keywords:

genomic DNA
Gene expression
Missense mutation
Exon
Restriction fragment length polymorphism
CMO II deficiency
Endocrinology
Internal medicine
Hypoaldosteronism
Gene
Genetics
Medicine
Corticosterone methyl oxidase
newly diagnosed
molecular mechanism
cyp11b2 gene

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