X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17Β-hydroxysteroid dehydrogenase 10 deficiency

European Journal of Human Genetics

Volumn 18, Issue 12, 2010, Pages 1353-1355

  García Villoria, Judit ^a,b   Gort, Laura ^a,b   Madrigal, Irene ^a,b   Fons, Carme ^b,c   Fernández, Cristina ^a,b   Navarro Sastre, Aleix ^a,b   Milà, Montserrat ^a,b   Briones, Paz ^a,b,d   García Cazorla, Angeles ^b,c   Campistol, Jaume ^b,c   Ribes, Antonia ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d CSIC   (Spain)

Author keywords

HADH2; HSD10 deficiency; HSD17B10

Indexed keywords

17BETA HYDROXYSTEROID DEHYDROGENASE 10; COMPLEMENTARY DNA; MESSENGER RNA; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; MUTANT; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE GENETICS; SEX DIFFERENCE; WILD TYPE; X CHROMOSOME INACTIVATION;

3-HYDROXYACYL COA DEHYDROGENASES; BASE SEQUENCE; DNA PROBES; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; X CHROMOSOME INACTIVATION;

EID: 78549232579     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.118     Document Type: Article

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