Mutations in TMEM231 cause Meckel-Gruber syndrome

Journal of Medical Genetics

Volumn 50, Issue 3, 2013, Pages 160-162

  Shaheen, Ranad ^a   Ansari, Shinu ^a   Mardawi, Elham A L ^b   Alshammari, Muneera J ^a,c   Alkuraya, Fowzan S ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b SECURITY FORCES HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; TMEM231 PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; TMEM231 PROTEIN, HUMAN;

ALLELE; ARTICLE; CLINICAL ARTICLE; EXOME; FAMILY; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MECKEL SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; AMINO ACID SEQUENCE; CASE REPORT; CILIARY DYSKINESIA; CONSANGUINITY; ENCEPHALOCELE; FEMALE; GENETICS; KIDNEY POLYCYSTIC DISEASE; MALE; MOLECULAR GENETICS; PEDIGREE; PREGNANCY; SEQUENCE ALIGNMENT; SPONTANEOUS ABORTION;

ABORTION, SPONTANEOUS; AMINO ACID SEQUENCE; CILIARY MOTILITY DISORDERS; CONSANGUINITY; ENCEPHALOCELE; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYCYSTIC KIDNEY DISEASES; PREGNANCY; SEQUENCE ALIGNMENT;

EID: 84874771371     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101431     Document Type: Article

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