Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Nature Genetics

Volumn 46, Issue 2, 2014, Pages 182-187

  Piotrowski, Arkadiusz ^a,b   Xie, Jing ^a   Liu, Ying F ^a   Poplawski, Andrzej B ^a   Gomes, Alicia R ^a   Madanecki, Piotr ^b   Fu, Chuanhua ^a   Crowley, Michael R ^c   Crossman, David K ^c   Armstrong, Linlea ^d   Babovic Vuksanovic, Dusica ^e   Bergner, Amanda ^f   Blakeley, Jaishri O ^f   Blumenthal, Andrea L ^g   Daniels, Molly S ^h   Feit, Howard ⁱ   Gardner, Kathy ^j   Hurst, Stephanie ^g   Kobelka, Christine ^k   Lee, Chung ^l   Nagy, Rebecca ^m   Rauen, Katherine A ^l   Slopis, John M ^h   Suwannarat, Pim ^k   Westman, Judith A ^m   Zanko, Andrea ^l   Korf, Bruce R ^a,c   Messiaen, Ludwine M ^a   more..

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e MAYO CLINIC   (United States)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g LAKERIDGE HEALTH CORPORATION   (Canada)

^h UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

ⁱ HENRY FORD HOSPITAL   (United States)

^j UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^k KAISER PERMANENTE   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m OHIO STATE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ARTICLE; CHROMOSOME 22Q; EXON; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; INTRON; LZTR1 GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEURILEMOMA; NF2 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SMARCB1 GENE; SOMATIC MUTATION;

BASE SEQUENCE; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 22; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; GENE COMPONENTS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NEURILEMMOMA; NEUROFIBROMATOSIS 2; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84895825681     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2855     Document Type: Article

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