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  2. Details for: Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. [electronic resource]

By:
  • Khaddour, Rana
Contributor(s):
  • Smith, Ursula
  • Baala, Lekbir
  • Martinovic, Jéléna
  • Clavering, Davina
  • Shaffiq, Rizwana
  • Ozilou, Catherine
  • Cullinane, Andrew
  • Kyttälä, Mira
  • Shalev, Stavit
  • Audollent, Sophie
  • d'Humières, Camille
  • Kadhom, Noman
  • Esculpavit, Chantal
  • Viot, Géraldine
  • Boone, Claire
  • Oien, Christine
  • Encha-Razavi, Férechté
  • Batman, Philip A
  • Bennett, Christopher P
  • Woods, C Geoffrey
  • Roume, Joelle
  • Lyonnet, Stanislas
  • Génin, Emmanuelle
  • Le Merrer, Martine
  • Munnich, Arnold
  • Gubler, Marie-Claire
  • Cox, Phillip
  • Macdonald, Fiona
  • Vekemans, Michel
  • Johnson, Colin A
  • Attié-Bitach, Tania
Producer: 20070621Description: 523-4 p. digitalISSN:
  • 1098-1004
Subject(s):
  • Central Nervous System Diseases -- genetics
  • Cohort Studies
  • Ethnicity
  • Genotype
  • Humans
  • Membrane Proteins -- genetics
  • Mutation
  • Phenotype
  • Proteins -- genetics
  • Syndrome
Online resources:
  • Available from publisher's website
In: Human mutation vol. 28
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Publication Type: Journal Article

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

APA

Khaddour R., Smith U., Baala L., Martinovic J., Clavering D., Shaffiq R., Ozilou C., Cullinane A., Kyttälä M., Shalev S., Audollent S., d'Humières C., Kadhom N., Esculpavit C., Viot G., Boone C., Oien C., Encha-Razavi F., Batman P. A., Bennett C. P., Woods C. G., Roume J., Lyonnet S., Génin E., Le Merrer M., Munnich A., Gubler M., Cox P., Macdonald F., Vekemans M., Johnson C. A. & Attié-Bitach T. (20070621). Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. : Human mutation.

Chicago

Khaddour Rana, Smith Ursula, Baala Lekbir, Martinovic Jéléna, Clavering Davina, Shaffiq Rizwana, Ozilou Catherine, Cullinane Andrew, Kyttälä Mira, Shalev Stavit, Audollent Sophie, d'Humières Camille, Kadhom Noman, Esculpavit Chantal, Viot Géraldine, Boone Claire, Oien Christine, Encha-Razavi Férechté, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, Roume Joelle, Lyonnet Stanislas, Génin Emmanuelle, Le Merrer Martine, Munnich Arnold, Gubler Marie-Claire, Cox Phillip, Macdonald Fiona, Vekemans Michel, Johnson Colin A and Attié-Bitach Tania. 20070621. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. : Human mutation.

Harvard

Khaddour R., Smith U., Baala L., Martinovic J., Clavering D., Shaffiq R., Ozilou C., Cullinane A., Kyttälä M., Shalev S., Audollent S., d'Humières C., Kadhom N., Esculpavit C., Viot G., Boone C., Oien C., Encha-Razavi F., Batman P. A., Bennett C. P., Woods C. G., Roume J., Lyonnet S., Génin E., Le Merrer M., Munnich A., Gubler M., Cox P., Macdonald F., Vekemans M., Johnson C. A. and Attié-Bitach T. (20070621). Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. : Human mutation.

MLA

Khaddour Rana, Smith Ursula, Baala Lekbir, Martinovic Jéléna, Clavering Davina, Shaffiq Rizwana, Ozilou Catherine, Cullinane Andrew, Kyttälä Mira, Shalev Stavit, Audollent Sophie, d'Humières Camille, Kadhom Noman, Esculpavit Chantal, Viot Géraldine, Boone Claire, Oien Christine, Encha-Razavi Férechté, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, Roume Joelle, Lyonnet Stanislas, Génin Emmanuelle, Le Merrer Martine, Munnich Arnold, Gubler Marie-Claire, Cox Phillip, Macdonald Fiona, Vekemans Michel, Johnson Colin A and Attié-Bitach Tania. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. : Human mutation. 20070621.

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