Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 4, 2005, Pages 385-393

  Gat Yablonski, G ^a,b   Klar, A ^c   Hirsch, D ^a,d   Eliakim, A ^a,e   Lazar, L ^a,b   Hurvitz, H ^c   Phillip, M ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d RABIN MEDICAL CENTER   (Israel)

^e MEIR MEDICAL CENTER   (Israel)

Author keywords

Combined pituitary hormone deficiency; DGGE; Growth hormone; Multiple pituitary hormone deficiency; POU1F1; Prolactin; Thyroid stimulating hormone

Indexed keywords

GROWTH HORMONE; HOMEODOMAIN PROTEIN; LEVOTHYROXINE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PIT 1; UNCLASSIFIED DRUG;

ADENOHYPOPHYSIS; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE DELETION; GENE MUTATION; GENOME ANALYSIS; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOPITUITARISM; HYPOTHYROIDISM; ISRAEL; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PROLACTIN BLOOD LEVEL; PROTEIN FUNCTION; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; THYROTROPIN BLOOD LEVEL;

EID: 17144376443     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.4.385     Document Type: Article

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