000 | 01673 a2200469 4500 | ||
---|---|---|---|
005 | 20250515203704.0 | ||
264 | 0 | _c20100331 | |
008 | 201003s 0 0 eng d | ||
022 | _a1945-7197 | ||
024 | 7 |
_a10.1210/jc.2009-1823 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRaef, Hussein | |
245 | 0 | 0 |
_aBiallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. _h[electronic resource] |
260 |
_bThe Journal of clinical endocrinology and metabolism _cMar 2010 |
||
300 |
_a1000-6 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 |
_aCarcinoma, Papillary, Follicular _xgenetics |
650 | 0 | 4 |
_aCongenital Hypothyroidism _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Testing |
650 | 0 | 4 |
_aGoiter _xcongenital |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aImmunohistochemistry |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aThyroglobulin _xgenetics |
650 | 0 | 4 |
_aThyroid Gland _xmetabolism |
650 | 0 | 4 |
_aThyroid Neoplasms _xgenetics |
650 | 0 | 4 | _aThyroidectomy |
700 | 1 | _aAl-Rijjal, Roua | |
700 | 1 | _aAl-Shehri, Sameerah | |
700 | 1 | _aZou, Minjing | |
700 | 1 | _aAl-Mana, Hadeel | |
700 | 1 | _aBaitei, Essa Y | |
700 | 1 | _aParhar, Ranjit S | |
700 | 1 | _aAl-Mohanna, Futwan A | |
700 | 1 | _aShi, Yufei | |
773 | 0 |
_tThe Journal of clinical endocrinology and metabolism _gvol. 95 _gno. 3 _gp. 1000-6 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1210/jc.2009-1823 _zAvailable from publisher's website |
999 |
_c19466412 _d19466412 |