A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

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A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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A Large Deletion in the NSDHL ...... enital Cornification Disorder.

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A Large Deletion in the NSDHL ...... enital Cornification Disorder.

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A Large Deletion in the NSDHL ...... enital Cornification Disorder.

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P1476

A Large Deletion in the NSDHL ...... genital Cornification Disorder

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Giorgia Mezzalira

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Margret L Casal

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Michela De Lucia

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Monika M Welle

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Vidhya Jagannathan

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P2860

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement

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3115-3121

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scholarly article

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10.1534/G3.117.1124

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P433

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P478

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Tosso Leeb

Anina Bauer

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2017-09-07T00:00:00Z

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P698

28739597

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P921

birth defect

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5592936

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