000 01755 a2200541 4500
005 20250517210942.0
008 ####s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2018.03.015
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLake, Nicole J
245 0 0 _aBiallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
_h[electronic resource]
260 _bAmerican journal of human genetics
_c04 2018
300 _a713 p.
_bdigital
500 _aPublication Type: Journal Article; Published Erratum
700 1 _aWebb, Bryn D
700 1 _aStroud, David A
700 1 _aRichman, Tara R
700 1 _aRuzzenente, Benedetta
700 1 _aCompton, Alison G
700 1 _aMountford, Hayley S
700 1 _aPulman, Juliette
700 1 _aZangarelli, Coralie
700 1 _aRio, Marlene
700 1 _aBoddaert, Nathalie
700 1 _aAssouline, Zahra
700 1 _aSherpa, Mingma D
700 1 _aSchadt, Eric E
700 1 _aHouten, Sander M
700 1 _aByrnes, James
700 1 _aMcCormick, Elizabeth M
700 1 _aZolkipli-Cunningham, Zarazuela
700 1 _aHaude, Katrina
700 1 _aZhang, Zhancheng
700 1 _aRetterer, Kyle
700 1 _aBai, Renkui
700 1 _aCalvo, Sarah E
700 1 _aMootha, Vamsi K
700 1 _aChristodoulou, John
700 1 _aRötig, Agnes
700 1 _aFilipovska, Aleksandra
700 1 _aCristian, Ingrid
700 1 _aFalk, Marni J
700 1 _aMetodiev, Metodi D
700 1 _aThorburn, David R
773 0 _tAmerican journal of human genetics
_gvol. 102
_gno. 4
_gp. 713
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2018.03.015
_zAvailable from publisher's website
999 _c28257664
_d28257664