SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.

SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Research Abstract Details 

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SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Abstract Text:

Y Zhao,Z H Ma,Y Yang,S X Yang,L S Wu,B L Ding,Z M Lin,A P Wang,D F Bu,P Tu,Y Zhao,Z H Ma,Y Yang,S X Yang,L S Wu,B L Ding,Z M Lin,A P Wang,D F Bu,P Tu,

Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI) protein. We observed microstructural changes and detected LEKTI activity and SPINK5 gene mutation in three Chinese patients with Netherton's syndrome. Decreased LEKTI activity was found in the skin of patients. Lamellar bodies and foci of electron-dense material were detected in the intercellular spaces of the stratum corneum. A novel homozygous splicing mutation of 1430+2 T-->G was found in the SPINK5 gene in one proband. No mutation was found in the other family.

SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Publishing Authors By Initials

Y Zhao,ZH Ma,Y Yang,SX Yang,LS Wu,BL Ding,ZM Lin,AP Wang,DF Bu,P Tu,Y Zhao,ZH Ma,Y Yang,SX Yang,LS Wu,BL Ding,ZM Lin,AP Wang,DF Bu,P Tu,

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SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical and experimental dermatology

VOLUME: 32

Page Numbers: 564-7

Journal Abbreviation: Clin. Exp. Dermatol.

ISSN: 0307-6938

DAY: 2

MONTH: 07

YEAR: 2007

SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 7606847

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Grant and Affiliation Information for SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.

AFFILIATION: Department of Dermatology, Peking University First Hospital, Beijing, China.

Country: England

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MEDLINETA: Clin Exp Dermatol

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