The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

American Journal of Human Genetics

Volumn 83, Issue 4, 2008, Pages 529-534

  Molho Pessach, Vered ^a   Lerer, Israela ^a   Abeliovich, Dvorah ^a   Agha, Ziad ^a   Abu Libdeh, Abdulasalam ^b   Broshtilova, Valentina ^c   Elpeleg, Orly ^a   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Al Makassed Islamic Charitable Society Hospital   (Israel)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOSIDE TRANSPORTER; NUCLEOSIDE TRANSPORTER HENT3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BULGARIA; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FEMALE; FLEXION CONTRACTURE; GENE MAPPING; GENE MUTATION; HALLUX VALGUS; HEARING LOSS; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HYPERPIGMENTATION; HYPERTRICHOSIS; HYPOGONADISM; MALE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SYNDROME H;

AMINO ACID SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; HYPERPIGMENTATION; HYPERTRICHOSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SKIN DISEASES, GENETIC; SYNDROME;

VALGUS;

EID: 53249090469     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.09.013     Document Type: Article

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