Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.
Eur J Endocrinol
; 153(3): 359-66, 2005 Sep.
Article
in En
| MEDLINE
| ID: mdl-16131597
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Point Mutation
/
Monocarboxylic Acid Transporters
/
Mental Retardation, X-Linked
/
Muscle Hypotonia
Type of study:
Prognostic_studies
Limits:
Animals
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Eur J Endocrinol
Journal subject:
ENDOCRINOLOGIA
Year:
2005
Type:
Article
Affiliation country:
Germany