A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

Carolina Carlosama, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel, Brigitte Delemer, Jacques Young, Nadine Binart, Paul Laissue

Resultado de la investigación: Contribución a RevistaArtículo

1 Cita (Scopus)

Resumen

En este estudio identificamos una nueva mutación en KHDRBS1 en una paciente POI con un potencial efecto deletéreo.
Idioma originalEnglish (US)
Número de artículo3
Páginas (desde-hasta)245-246
Número de páginas2
PublicaciónClinical Endocrinology
Volumen4
N.º6
DOI
EstadoE-pub ahead of print - may 28 2018
Publicado de forma externa

Citar esto

Carlosama, C., Patiño, L. C., Beau, I., Morel, A., Delemer, B., Young, J., ... Laissue, P. (2018). A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. Clinical Endocrinology, 4(6), 245-246. [3]. https://doi.org/10.1111/cen.13749
Carlosama, Carolina ; Patiño, Liliana Catherine ; Beau, Isabelle ; Morel, Adrien ; Delemer, Brigitte ; Young, Jacques ; Binart, Nadine ; Laissue, Paul. / A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. En: Clinical Endocrinology. 2018 ; Vol. 4, N.º 6. pp. 245-246.
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abstract = "En este estudio identificamos una nueva mutaci{\'o}n en KHDRBS1 en una paciente POI con un potencial efecto delet{\'e}reo.",
author = "Carolina Carlosama and Pati{\~n}o, {Liliana Catherine} and Isabelle Beau and Adrien Morel and Brigitte Delemer and Jacques Young and Nadine Binart and Paul Laissue",
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Carlosama, C, Patiño, LC, Beau, I, Morel, A, Delemer, B, Young, J, Binart, N & Laissue, P 2018, 'A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency', Clinical Endocrinology, vol. 4, n.º 6, 3, pp. 245-246. https://doi.org/10.1111/cen.13749

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. / Carlosama, Carolina; Patiño, Liliana Catherine; Beau, Isabelle; Morel, Adrien; Delemer, Brigitte; Young, Jacques; Binart, Nadine; Laissue, Paul.

En: Clinical Endocrinology, Vol. 4, N.º 6, 3, 28.05.2018, p. 245-246.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

AU - Carlosama, Carolina

AU - Patiño, Liliana Catherine

AU - Beau, Isabelle

AU - Morel, Adrien

AU - Delemer, Brigitte

AU - Young, Jacques

AU - Binart, Nadine

AU - Laissue, Paul

PY - 2018/5/28

Y1 - 2018/5/28

N2 - En este estudio identificamos una nueva mutación en KHDRBS1 en una paciente POI con un potencial efecto deletéreo.

AB - En este estudio identificamos una nueva mutación en KHDRBS1 en una paciente POI con un potencial efecto deletéreo.

U2 - 10.1111/cen.13749

DO - 10.1111/cen.13749

M3 - Article

VL - 4

SP - 245

EP - 246

JO - Clinical Endocrinology

JF - Clinical Endocrinology

SN - 0300-0664

IS - 6

M1 - 3

ER -

Carlosama C, Patiño LC, Beau I, Morel A, Delemer B, Young J y otros. A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. Clinical Endocrinology. 2018 may 28;4(6):245-246. 3. https://doi.org/10.1111/cen.13749