Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase (Q24616588)

C-5 sterol desaturase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Andrea Ballabio

8

0 references

Massimiliano Rossi

object named as

Massimiliano Rossi

3

1 reference

ORCID Public Data File 2021

author name string

Nicola Brunetti-Pierri

1

0 references

Gaetano Corso

2

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Paola Ferrari

4

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Fiorella Balli

5

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Francesco Rivasi

6

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Ida Annunziata

7

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Antonio Dello Russo

9

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Generoso Andria

10

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Giancarlo Parenti

American Journal of Human Genetics

11

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language of work or name

English

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publication date

October 2002

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published in

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volume

71

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issue

4

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page(s)

952-8

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cites work

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Isolation and characterization of an Arabidopsis thaliana cDNA encoding a delta 7-sterol-C-5-desaturase by functional complementation of a defective yeast mutant

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Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

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inferred from PubMed ID database lookup

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based on heuristic

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12189593