Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Ballhausen,  D.; Bonafe,  L.; Terhal,  P.; Unger,  S. L.; Bellus,  G.; Classen,  M.; Hamel,  B. C.; Spranger,  J.; Zabel,  B.; Cohn,  D. H.; Cole,  W. G.; Hecht,  J. T.; Superti-Furga,  A.

doi:10.1136/jmg.40.1.65

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Détails

Demande d'une copie

ID Serval

serval:BIB_2B32349A8D48

Type

Article: article d'un périodique ou d'un magazine.

Sous-type

Etude de cas (case report): rapporte une observation et la commente brièvement.

Collection

Publications

Institution

UNIL/CHUV

Titre

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Périodique

Journal of Medical Genetics

Auteur⸱e⸱s

Ballhausen D., Bonafe L., Terhal P., Unger S. L., Bellus G., Classen M., Hamel B. C., Spranger J., Zabel B., Cohn D. H., Cole W. G., Hecht J. T., Superti-Furga A.

ISSN

1468-6244

Statut éditorial

Publié

Date de publication

01/2003

Peer-reviewed

Oui

Volume

40

Numéro

1

Pages

65-71

Notes

Letter Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan

Mots-clé

Adolescent Adult Amino Acid Substitution/genetics Anion Transport Proteins Arginine/*genetics Biological Transport/genetics Carrier Proteins/*genetics/metabolism Child Chromosome Mapping/*methods Female Genes, Recessive/*genetics *Homozygote Humans Male Membrane Transport Proteins Middle Aged Mutation/*genetics Osteochondrodysplasias/*genetics Phenotype Sulfates/metabolism Tryptophan/*genetics

OAI-PMH

oai:serval.unil.ch:BIB_2B32349A8D48

DOI

10.1136/jmg.40.1.65

Pubmed

12525546

Web of science

000180670500012

Open Access

Oui

Création de la notice

21/01/2008 13:50