Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene
about
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.Runs of homozygosity identify a recessive locus 12q21.31 for human adult height.IGF-1 and bone: New discoveries from mouse modelsGenetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthThe STAT5b Pathway Defect and AutoimmunitySTAT5B deficiency: Impacts on human growth and immunityDiscovery of somatic STAT5b mutations in large granular lymphocytic leukemia.STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritabilityEvaluation of growth hormone (GH) action in mice: discovery of GH receptor antagonists and clinical indications.Uncovering the pathogenesis of large granular lymphocytic leukemia-novel STAT3 and STAT5b mutations.Acid-labile subunit deficiency and growth failure: description of two novel casesClinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
P2860
Q33718865-D6752197-F4F1-48E8-96C5-DBE5DA87948AQ33846721-20084B8B-6B41-455C-8A4D-80699D7A1D06Q34032083-42CDF284-D57B-429E-ABBC-B8CA69A47366Q35229825-F90871A0-E6BC-4A38-AFF3-5A12280A0043Q35972326-4122166C-B53E-4C19-9CC6-8A0FBEEF82C1Q36162564-D23B8CF0-9EA3-49D3-A1CB-8A454AFA203EQ36840204-62CC6DD2-F26F-4D93-9D4B-44483D72FE9BQ36889731-7610A497-EF9F-4B7D-A418-10683F4E13FBQ36983024-0E5AD002-D0FC-4EFA-B7A0-91C5675170A2Q37619460-458C3AB4-E45D-4C28-9021-ABDBF07AC5C4Q38186800-3D82AA47-CC97-418B-AD38-A53CCA77635AQ40507173-E68D0AEA-0671-49E0-B1E3-E93C69A2C4E5Q59137718-CF632B38-79E8-453A-907E-319DD3559413
P2860
Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene
description
2007 nî lūn-bûn
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2007 թուականին հրատարակուած գիտական յօդուած
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2007 թվականին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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name
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@ast
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@en
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@nl
type
label
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@ast
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@en
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@nl
prefLabel
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@ast
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@en
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@nl
P2093
P2860
P356
P1433
P1476
Growth hormone insensitivity a ...... 13 junction of the STAT5b gene
@en
P2093
Alessia David
Brian M Little
Cecilia Camacho-Hübner
Lou A Metherell
Martin O Savage
Nesrin El-Khatib
Ron G Rosenfeld
Vivian Hwa
P2860
P304
P356
10.1159/000101334
P407
P577
2007-01-01T00:00:00Z