Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Human Genetics

Volumn 112, Issue 3, 2003, Pages 249-254

  Winter, Jennifer ^a   Lehmann, Tanja ^a,f   Suckow, Vanessa ^a   Kijas, Zofia ^a   Kulozik, Andreas ^b   Kalscheuer, Vera ^a   Hamel, Ben ^c   Devriendt, Koen ^d   Opitz, John ^e   Lenzner, Steffen ^a   Ropers, Hans Hilger ^a   Schweiger, Susann ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CENTER FOR HUMAN GENETICS   (Belgium)

^e PRIMARY CHILDREN'S MEDICAL CENTER   (United States)

^f MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA; RNA; LIGASE; MICROTUBULE PROTEIN; MID1 PROTEIN, HUMAN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR;

5' UNTRANSLATED REGION; ARTICLE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CODON; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DYSPHAGIA; EXON; FEMALE; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC TRANSCRIPTION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYDRAMNIOS; HYPERTELORISM; HYPOSPADIAS; MIDDLE 1 GENE; MULTIGENE FAMILY; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; STOP CODON; WILD TYPE; X CHROMOSOME RECESSIVE INHERITANCE; GENETICS; MALE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMITH LEMLI OPITZ SYNDROME;

BLOTTING, NORTHERN; BLOTTING, SOUTHERN; EXONS; FEMALE; GENE DUPLICATION; HUMANS; LIGASES; MALE; MICROTUBULE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SMITH-LEMLI-OPITZ SYNDROME; TRANSCRIPTION FACTORS;

EID: 0037361484     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0901-5     Document Type: Article

References (13)

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